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Some conditions require a specific diet - a dietician is critical in helping to plan.

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After Justin Zhao was diagnosed with the rare metabolic disorder sitosterolemia five years ago, the toughest part of treatment was watching his three siblings eat chocolate when he couldn't.

Sitosterolemia is a genetic disease that causes the fatty substances, or lipids, from plant-based foods such as nuts and vegetable oils to build up in the arteries, increasing the risk of heart attack and stroke.

Yet, being diagnosed with a life-changing condition initially didn't upset Justin. "I honestly didn't think it was a big deal because I felt fine," he recalls. He didn't realize that continuing to eat mostly what he wanted - including an occasional chocolate - and not exercising enough would eventually trigger a serious warning from his care team at Boston Children's. They warned that his condition would worsen if he didn't change his habits. "Then I got serious about it."

Now 18, Justin appreciates how the Preventive Cardiology Clinic helped him manage a condition that has no universal form of treatment but rather a process that relies on collaboration between patient, nurse practitioner, cardiologist, and dietitian.

Diagnosing a rare genetic disease

Because there aren't many documented cases, diagnosing sitosterolemia isn't easy. Justin first caught the attention of his primary care doctor by displaying symptoms of high cholesterol. He had cholesterol deposits on the skin of his elbows and knees, and his Achilles tendons widened. But a cholesterol screening detected only mildly elevated LDL levels, pointing to another condition. Justin was referred to Boston Children's, where the Preventive Cardiology Clinic team believed genetic testing would offer an answer. Indeed, it confirmed sitosterolemia.

"It's challenging to diagnose and easy to see how this could be missed in patients," says Dr. Elizabeth Yellen, a Boston Children's cardiologist. "It is believed many cases go undetected."

The next question was what to do next. Justin is the first, and so far only, patient the clinic has seen with sitosterolemia. Dr. Yellen and pediatric nurse practitioner Jennifer Bachman researched the disease and spoke with clinicians across the country who had treated it. Fortunately, despite the disease's rareness, the mechanism for how it works is still understood, which helped the team determine how to treat Justin, Bachman recalls. For instance, they knew the medications that are used to lower the lipid values of similar conditions could also work to combat sitosterolemia.

Collaborating on a healthy diet and improved lifestyle

Justin's mom, Joey, appreciates how Bachman, Dr. Yellen, and dietitian S. Skylar Griggs make daily treatment seem achievable. They always answer her questions, often communicating through an interpreter who speaks Cantonese. The clinical team, in turn, relies on Justin's and Joey's feedback to see what works and what doesn't to collaborate on dietary and exercise goals he can reach.

Justin can no longer eat certain seafoods, peanuts, almonds, and avocados. Aside from missing out on chocolate, he also had to eliminate plant oils such as corn, soybean, and palm - a tall order because some of them are used in foods Justin had enjoyed at the Chinese restaurant owned by his father, Ying.

But Griggs viewed Justin's dietary guidelines as an opportunity to encourage him to say "yes" to a broader palette of foods he would eventually appreciate. It's okay to have lean protein sources such as chicken and tofu. While servings of broccoli and cauliflower had to be reduced, Justin could eat all other vegetables and all fruit. He is happy the menu at his father's restaurant isn't entirely off limits; he likes Bok choy.

Justin's mom has helped him adhere to his daily medication schedule. And the clinic's warning to get serious about treatment not only moved Justin to finally eat healthy, but it also motivated him to exercise. He played lacrosse and ran cross-country at his high school in Fairhaven, Mass.

This fall, he started a new chapter, one that requires him to stay true to his diet, exercise, and medication routines as he studies pre-occupational therapy in college and lives away from home for the first time. He's up for the challenge, and has his care team to thank for that. "They've been helpful," he says. "I don't know what I would have done without them."

Learn more about the Preventive Cardiology Clinic, or make an appointment.

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Dieting and exercise can treat rare metabolic disorder

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Facing the rare metabolic disorder sitosterolemia at a young age, Justin has followed a healthier diet and stepped up his exercise routine.

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NORD’s State Policy Report Card is a landscape analysis of policies at the state level that impact the rare disease community. It can be a useful tool to help educate you and your coalition on where your state stands on key policies that affect the rare disease community.

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National Organization for Rare Disorders

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NORD State Report Card | States Serving People with Rare Diseases

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The NHGRI ISCC-PEG Nursing Genomics Project Group hosts a webinar that begins pre-recorded video of nursing genomics experts answering questions frequently posed by the public and entry-level nurses, as well as by advanced-practice nurses (practitioners and educators). The recorded responses to these questions expand upon topics included in the “Nursing Genomics FAQ” resource posted on: https://www.genome.gov/nursing-genomics.

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National Human Genome Research Institute

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HPGE Week - Nursing Genomics Frequently Asked Questions: Expert Commentaries

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The Role of Pharmacists in Rare Disease Care

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The Role of Pharmacists in Rare Disease Care

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Pharmacists play an important role in identifying & recommending treatments and medications for patients with a rare disease.

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On February 28, 2022, 106 countries will come together for Rare Disease Day. This global event has been observed since 2008 to increase awareness and advocate for those impacted by rare diseases.

Nationwide, rare diseases affect an estimated 30 million individuals, but what quite defines a disease as being rare? Unfortunately, it's not a straightforward answer. Per the 1984 amendment to the Orphan Drug Act of 1983 (ODA), the United States classifies a disease as being rare when less than 200,000 people are affected. 1,2

Today, more than 7000 diseases fit this definition, ranging from more well-known conditions such as multiple sclerosis and cystic fibrosis, to diseases most people have never heard of, such as Prader-Willi syndrome and Friedreich's ataxia. 3 Patients with rare conditions have highly complex treatment needs, requiring a multi-disciplinary care team approach.

Pharmacists hold a vastly underrecognized role within this team-a role that offers a unique approach toward the therapeutic management of rare diseases.

The development and designation of orphan drugs has tremendously improved since the passage of the ODA, but progress is still to be made. The orphan drug market is expected to surpass $217 billion in sales by 2024, which is a staggering cost despite their utility in rare conditions. Today, only approximately 10% of rare diseases have FDA-approved therapies. 4

As a consequence, the remaining 90% of patients with a rare disease are left without standard treatment options and often have to rely on off-label drug use or no treatment at all. Although off-label prescribing of medications is not generally a preferred approach, it does play a pertinent role in rare conditions. 5

When faced with this situation, pharmacists must consult drug information resources, primary literature, and use their clinical knowledge to best assist prescribers. Thus, it's important that pharmacists remain up to date on new drug approvals, drug safety warnings, and medical literature to properly partake in the care of rare disease patients.

Examples of rare diseases that currently require this approach include Alpers-Huttenlocher syndrome (AHS), aromatic L-amino acid decarboxylase (AADC) deficiency, and Rett syndrome. 6,7 AHS, is a neurological disease characterized by seizures, hepatic insufficiency, and cognitive decline.

For seizure management in this population, it is well-documented that valproic acid should be avoided due to its hepatoxic effects accelerating the progress to liver failure. Pharmacists can recommend antiepileptics that are less reliant on hepatic metabolism, such as levetiracetam, topiramate, and lacosamide. 7,8

AADC deficiency is a genetic neurometabolic disorder that results in the improper synthesis of vital neurotransmitters-namely, serotonin, and dopamine. Because of the nature of this disease, pharmacists can offer guidance on medications to avoid. Limited reports exist, but central dopamine antagonists and serotonergic antagonists should be avoided because they can worsen symptoms. 9

A pharmacist can apply the same principle to Rett syndrome and other rare conditions, overall improving patient outcomes and enhancing the knowledge of the care team. Pharmacists serve as the final barrier between a patient and their medications and are the last step in the medication use process.

Therefore, it's important they remain up to date on new drug approvals, drug safety warnings, and medical literature to properly partake in the care of patients with a rare disease.

Orphan drugs that do gain FDA-approval also come with their own set of challenges. The FDA's approval process of orphan drugs is rather complex.

In short, once a drug receives official designation as an orphan drug, its approval has the potential eligibility to undergo 1 of the FDA's 4 expedited programs: Breakthrough Therapy, Priority Review, Fast Track, or Accelerated Approval. FDA-approved novel orphan drugs often result from clinical trials with small study populations. 1,10

Per the nature of the disorders that orphan drugs intend to treat, this is no surprise. In addition, the familiarity of rare diseases and their available treatments typically isn't common knowledge-it requires experience.

In addition to monitoring for adverse reactions, and drug interactions, pharmacists can address patient-specific barriers. For instance, swallowing difficulties can majorly impact medication adherence.

Dysphagia can be due to age extremes, manifestations of the disease itself, or medications. Pharmacists can recommend appropriate strategies to aid rare disease patients in overcoming this barrier.

Rare conditions that include dysphagia in its clinical presentation include myasthenia gravis, eosinophilic esophagitis, and amyotrophic lateral sclerosis (ALS). 11 Examples of orphan drugs that come in oral solution formulations include riluzole (Tiglutik) for ALS; nimodipine (Nymalize) for ischemic deficits in subarachnoid hemorrhage; and calcium, magnesium, potassium, and sodium oxybates (Xywav) for type I and type II narcolepsy in patients 7 years of age and older. 12-14

An additional barrier faced by patients with a rare disease is access to disease-specific care; however, 2 years ago, progression toward overcoming this barrier began. In 2020, URAC announced its new opportunity for specialty pharmacies to obtain the "Rare Disease Pharmacy Center of Excellence Designation."

This special distinction solidifies the role that a pharmacist can have in the realm of rare disease, extending the definition of a specialty pharmacy to include patients with highly unmet needs. Currently, 8 states have this designation. Although still few in number, the presence of rare disease pharmacies as a whole is essential in improving care to the rare disease population. 15

Rare Disease Day allows individuals across the globe to reflect on how far we've come, and yet, how far we still must go to adequately serve this population. Each patient afflicted by a rare disease has a unique story-a story that led to a journey they never thought they would be a part of.

The dynamic role of the pharmacist in rare disease care is vital to recognize. As steadfast advocates for their patients, pharmacists are able to provide highly personable care that can be just as impactful as pharmacotherapy.
References

Rare Disease Day [Internet]. NORD (National Organization for Rare Disorders). NORD; 2022 [cited 2022 Jan 28]. Available from: https://rarediseases.org/rare-disease-day/

Progress in Fighting Rare Diseases [Internet]. PhRMA Org. Pharmaceutical Research and Manufacturers of America®; [cited 2022 Jan 28]. Available from: https://phrma.org/resource-center/progress-in-fighting-rare-diseases

GARD. FAQs about rare diseases. 2021. https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases. Accessed 28 Jan 2022.

Huron J. New Study investigates the number of available orphan products, generics and Biosimilars [Internet]. NORD (National Organization for Rare Disorders). NORD; 2021 [cited 2022 Jan 28]. Available from: https://rarediseases.org/new-study-investigates-the-number-of-available-orphan-products-generics-and-biosimilars/

Wittich CM, Burkle CM, Lanier WL. Ten common questions (and their answers) about off-label drug use. Mayo Clin Proc. 2012 Oct;87(10):982-90. doi: 10.1016/j.mayocp.2012.04.017. Epub 2012 Aug 6. PMID: 22877654; PMCID: PMC3538391.

Choudhury N. Five rare diseases you never knew existed [Internet]. Open Access Government. 2021 [cited 2022 Jan 28]. Available from: https://www.openaccessgovernment.org/five-rare-diseases/60001/

U.S. Food and Drug Administration. Unmet Medical Device Needs for Patients with Rare Diseases. 2016. Available from:https://www.fda.gov/media/111309/download. Accessed 28 Jan 2022.

Saneto RP. Alpers-Huttenlocher syndrome: the role of a multidisciplinary health care team. J Multidiscip Healthc. 2016 Jul 26;9:323-33. doi: 10.2147/JMDH.S84900. PMID: 27555780; PMCID: PMC4968991.

Wassenberg T, Molero-Luis M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M, Opladen T. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet J Rare Dis. 2017 Jan 18;12(1):12. doi: 10.1186/s13023-016-0522-z. PMID: 28100251; PMCID: PMC5241937.

Kepplinger EE. FDA's Expedited Approval Mechanisms for New Drug Products. Biotechnol Law Rep. 2015 Feb 1;34(1):15-37. doi: 10.1089/blr.2015.9999. PMID: 25713472; PMCID: PMC4326266.

Jaradeh S. Muscle disorders affecting oral and pharyngeal swallowing [Internet]. Nature News. Nature Publishing Group; 2006 [cited 2022Jan28]. Available from: https://www.nature.com/gimo/contents/pt1/full/gimo35.html

TIGLUTIK (riluzole) oral suspension [package insert]. 2018. Available from: https://www.accessdata.fda.gov/drugsatfda_docs/label/2018/209080s000lbl.pdf

NYMALIZE (nimodipine) oral solution. [package insert]. 2013. Available from: https://www.accessdata.fda.gov/drugsatfda_docs/label/2013/203340lbl.pdf

XYWAVTM (calcium, magnesium, potassium, and sodium oxybates) oral solution, CIII. [package insert]. 2020. Available from: https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/212690s000lbl.pdf

Rare disease designation [Internet]. URAC. 2021. Available from: https://www.urac.org/accreditation-cert/rare-disease-designation/

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Rare Disease Day 2022: The Pharmacist's Role

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On February 28, 2022, 106 countries will come together for Rare Disease Day. This global event has been observed since 2008 to increase awareness and advocate for those impacted by rare diseases. Nationwide, rare diseases affect an estimated 30 million individuals, but what quite defines a disease as being rare?

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Child Life Specialists are specially trained professionals who help children, youth, and their families develop coping skills to manage the stress, fear, and anxiety of illness and injury.

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Certified Child Life Specialists are educated and clinically trained in the developmental impact of illness and injury. Their role helps improve patient and family care, satisfaction, and overall experience.

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Patient, Caregiver, Parent, Siblings, Clinicians, Advocates, and more share their stories & thoughts on these great podcasts!

** This is not an exclusive list of podcasts available discussing topics in rare disease.

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Whether you're already a podcast lover or are just starting to explore the podcast universe, you're in luck: There are a good number of podcasts that highlight voices from the rare disease community! We've rounded up some of the rare disease podcasts we love that are going strong and putting out new and upcoming episodes. Here are some reliable - and educational - podcasts from and for the rare disease community:

Effie, a parent of a child with a rare disease, shares her family's experience, interviews with experts and moving stories from other rare disease families who have persevered, cried, bonded and grown. These are stories of children who have been told that they cannot-and that have proved the world wrong.

Rare best friends Theresa and Kristine invite guests in the rare disease community to share their stories and help bridge the gap between a lack of knowledge and understanding.

Co-hosts Kyle and Sean are both affected by a rare disease called Friedreich's ataxia (FA), a neurodegenerative movement disorder. They interview rare disease leaders, paralympic athletes, health professionals, authors, speakers and more, to discuss living life beyond circumstances.

Hear from experts from inside and outside the NORD organization and find primers on topics like telehealth and gene therapy.

The host of this podcast seeks to share information about living with and dealing with a chronic or invisible disease, made even more difficult when the disease is rare. She shares her story and also invites guests to share their viewpoints and experiences, with the goal of helping patients, families, and other support systems better communicate and empathize with each other.

This podcast focuses on the intersection of rare disease with business, science and policy. Recent topics include the economic toll of rare disease and CRISPR.

Madeline has a son with a rare disease, and uses this podcast as a space to discuss parenting a child with a rare condition. Episodes consist of her sharing her expertise with special needs parenting, interviewing parents of children with complex, rare medical conditions, and speaking with professionals.

Annie Watson is a young adult who has lived with narcolepsy, a rare sleep disorder, for almost her entire life. Curious about other rare diseases, Annie will interview someone who has been affected (either directly or indirectly) by these diseases and disabilities. She will be discussing the ins and outs of some of the most captivating rare diseases with the patients, doctors, and loved ones who know what it's like to be rare.

This podcast talks about issues affecting people living with rare and underdiagnosed conditions, with discussions with advocates across the community. The podcast exists to chat and laugh and learn about issues that impact living with diseases doctors can't even spell.

Casey and Cassandra are a pair of best friends with the same rare disease. Their goal is simple: sharing their lives to showcase the beauty and normalcy in disability, while having fun together. They'll also touch on accessibility, friendships, style, and everything in between as they live their best, rare, lives!

Go Shout Love tells the stories of amazing kids on rare medical journeys through interviews with their families.These conversations are designed to inspire and encourage anyone who listens.

On this podcast, the host, who was diagnosed with a rare disease as an infant, chats with other rare disease patients, health professionals, and advocates to talk about all aspects of rare disease. They discuss relationships, mental health, and much more.

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12 Podcasts Highlighting Voices From the Rare Disease Community

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Whether you're already a podcast lover or are just starting to explore the podcast universe, you're in luck: There are a good number of podcasts that highlight voices from the rare disease community! We've rounded up some of the rare disease podcasts we love that are going strong and putting out new and upcoming episodes.

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A day in the Life of a PA who works in Genetics: How he got there and his contributions to introducing PA's to Genetics

More information about PAs in Genetics and Genomics: https://spagg.wildapricot.org/

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A Day in the Life of a PA in Genetics
An Inside Look at a Rare Specialty with Rare Disorders
May 11, 2022

By Wesley G. Patterson, PhD(c), MSPA, PA-C
From Summer Intern to a PA in Genetics

My genetics path started while I was an undergrad at Clemson University (go Tigers!). One day as I was walking through a building at Clemson, I saw a posting for a paid summer internship in the research division of the Greenwood Genetic Center (GGC). I was accepted for the internship, and during the summer between junior and senior year, I worked on a research panel analyzing genes related to X-linked intellectual disability. This internship sparked my now deep love for the field of medical genetics; however, at this time, I was unsure what I wanted to do with my life.

During my senior year, a friend introduced me to the PA profession. I was intrigued to learn someone could practice medicine without attending medical school. Upon graduating from Clemson, I took an EMT basic course and began shadowing physicians and PAs to gain healthcare experience. I was amazed at what all the PAs could do − work autonomously, carry their own patient panels, switch between specialties, and much more!

After graduating, I ran into a former GGC colleague. She asked about my career plans, and the next thing I knew, I received a phone call from GGC's Molecular Diagnostic Laboratory asking if I wanted to apply for a job. I went back to GGC, but this time as a technologist performing genetic tests that I now order today. After two years as a technologist, I headed to PA school at Radford University Carilion, formerly Jefferson College of Health Sciences.
[Receive unparalleled career services and support - join or renew your membership today]
During PA school, I set up an elective rotation in medical genetics back at GGC and loved it! I knew that this was where I wanted my PA career to go. Unfortunately, at that time, a PA working in genetics was unheard of. Upon graduating from PA school, I started my career in family medicine. After two and a half years, I received a life-changing phone call that GGC was interested in hiring their first PA. I was in awe. Over the next few months, we discussed training, scope of practice, and clinical duties. After three years in family medicine, I jumped at the chance to return "home" to the GGC, where I imagine I will retire one day.

A Typical Day
I have the typical 8 a.m.-5 p.m. work schedule, Monday through Friday. I see four to six patients per day, four days a week (Monday-Thursday). My job involves evaluating and treating individuals with suspected or known genetic disorders. My patient population consists of mostly children with developmental delay, intellectual disability, autism spectrum disorder, connective tissue disorders, hearing loss, epilepsy, hypotonia, birth defects, inborn errors of metabolism, or other unexplained medical issues. I see patients on an outpatient basis and also perform NICU and PICU consults. Occasionally, I take part in specialty clinics, such as the orthopaedic genetics clinic at Shriners Hospital for Children or at an adult facility for individuals with intellectual disability.

GGC offers both in-person and telemedicine appointments. Office visits typically last over an hour and involve obtaining a comprehensive pregnancy, perinatal, medical, developmental, and family history and performing a thorough physical exam, including a dysmorphology exam. Once the patient is evaluated, I order the appropriate genetic testing, if indicated. Many of our clinical activities occur outside of the actual office visit, such as reviewing all available medical records, analyzing genetic testing results, searching the literature to help with interpreting some results, and following up with patients and their families. In genetics, we also work closely and coordinate care with other pediatric subspecialties, such as cardiology, endocrinology, and neurology. I split day-call with the geneticist in our office on a 2-3 day per week rotation. I take night-call once every 10 weeks on a rotation with other GGC geneticists throughout the state. When we are on call, we are on call for the whole state of South Carolina.

On Fridays, we have a weekly center-wide case conference where all GGC providers take turns presenting interesting cases seen during the week or asking the group for advice about a patient or diagnosis. Attendees include PAs, geneticists, genetic counselors, dieticians, laboratory directors, researchers, a developmental pediatrician, and a psychologist. The rest of the day may be filled with other meetings or time used to catch up on work from the previous week (charting, calling out results, coordinating care, etc.).

Advocacy and Education for PAs and Genetics
I love advocacy and education, and I am very passionate about genetics and the PA profession. I decided to combine these two passions by pursuing a PhD in Healthcare Genetics from Clemson University. My dissertation work focuses on genetics and genomic education for PAs, and I have several manuscripts in the works for publication. One of my goals is to educate all PA students and practicing PAs on how to incorporate genetics and genomics into their career and specialty. I have helped develop genetics lecture series for four PA programs (soon to be seven) and serve as a clinical preceptor for several PA programs. I have also lectured at the state and national level to educate the PA community about genetics. We have many projects in the works at GGC to educate PAs that we hope to launch soon!

I encourage PAs interested in genetics to check out the National Institutes of Health's All of Us Research Program, a longitudinal effort to gather health data from one million or more people to build one of the most diverse health information resources in history. The program aims to advance precision medicine research - which we use in genetics to ensure patients have the appropriate therapies, monitoring, and specialty care they need - by collecting genetic, environmental, and lifestyle data from participants of different backgrounds who reflect the diversity of the U.S. By getting involved, participants will not only help diversify the research base, but can also learn more about themselves through the program's return of genetic results. Plus, PA researchers can check out the publicly available data on the All of Us Research Hub.

I am a founding member of the Society of PAs in Genetics and Genomics and serve as treasurer and web designer. I am also involved with advocacy through many other organizations, including other PA, genetics, and genetics education organizations.

Genetics is a close-knit community. Currently, there are only 18 PAs practicing in the field of medical genetics (two at GGC), and we keep in close contact with each other. We would love to grow our community. If you are interested in a career in genetics, please feel free to reach out!
Wesley G. Patterson, PhD(c), MSPA, PA-C, practices medical genetics at the Greenwood Genetic Center in Greenwood, South Carolina. He will be giving a presentation at AAPA 2022 titled "The Genetics Evaluation: Who to Refer and What to Expect." He can be reached at .
Originally published on March 22, 2022

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The All of Us Research Program

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As a PA practicing in medical genetics, Wesley Patterson, PhD(c), MSPA, PA-C, evaluates and treats patients with suspected or known genetic disorders. His current dissertation work focuses on genetics and genomic education for PAs, mirroring his passion to advocate for the importance of further incorporating genetics into the PA profession.

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Ep. 14 "Seldom Silent, Never Heard" - "Quincy, ME" TV Show

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Ep. 14 "Seldom Silent, Never Heard" - "Quincy, ME" TV Show

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Actor Jack Klugman, Star of the 80's TV show "Quincy, ME" and his brother Maurice Klugman, who was a producer of the show & had a rare cancer, heard about the efforts on Capital Hill to pass the Orphan Drug Act. After learning about the issues and rare disease patient perspective, the two wrote 2 episodes that highlighted an individual with a rare disease and their story.

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Quincy, M. E. Season 6 : TVSTAR : Free Download, Borrow, and Streaming : Internet Archive

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Many rare diseases have a genetic basis, making genetic specialists very important to the community. Check out the resources below to learn more about various careers in genetics!

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The Importance of Non-Genetic Specialists

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The Importance of Non-Genetic Specialists

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Below are stories that describe how non-genetic specialists care for patients with rare diseases. More to come!

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Rare Disease is celebrated each year at the end of February - read the stories of the MANY individuals and families impacted by rare disease.  https://www.rarediseaseday.org/heroes/

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Treating a child with severe genetic skin disorder

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Learn how a dermatologist's care helps a young girl diagnosed with harlequin ichthyosis, a severe genetic skin disorder, walk again.

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A Neonatal Neurocritical Multidisciplinary Team Anecdote

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A Neonatal Neurocritical Multidisciplinary Team Anecdote

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Collaboration between neonatologists & neurology specialists saves the life a newborn with an extremely rare congenital vascular disease

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Case Study: Neonatal Neurocritical Care Team

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Highlighting the importance of multidisciplinary collaboration represented by the Neonatal Neurocritical Care program, this case follows the care of a full-term female infant with a rare congenital vascular disease.

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A Cardiologist helps take care of a patient with a rare congenital heart defect called Ebstein’s Anomaly: https://news.unchealthcare.org/2021/10/ebsteins-anomaly-a-rare-disease-treated-with-world-class-care-here-at-home/

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The mission of the RareAction Network® (RAN) is to connect and empower a unified network of individuals and organizations with tools, training, and resources to become effective advocates for rare diseases through national and state based initiatives across the United States.

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Alone we are rare. Together we are strong.(R)

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Extraordinary Measures (2010, Director: Tom Vaughan)

Lorenzo's oil (1992, Director: George Miller)

GATTACA (1997, Director: Andrew Niccol)

Wonder (2017, Director: Stephen Chbosky)

Five feet apart (2019, Director: Justin Baldoni)

The Genes: An Intimate History (2020, Emmy nomination for outstanding science and technology documentary)

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- Chasing my Cure (by David Fajgenbaum)
- Wonder (by R. J. Palacio)

- Rare like us: From Losing My Dad to Finding Myself in a Family Plagued by Genetic Disease (by Taylor Kane)

- The Power of Rare: A Blueprint for a Medical Revolution (by Victoria Jackson)

- Orphan Drugs: A global crusade (by Abbey Meyers) (https://www.abbeysmeyers.com/)
- Recommendations from the Genetic Counseling Programs: https://www.westernstatesgenetics.org/wp-content/uploads/2020/10/Combined_GC_Program_Reading_List.pdf

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Early Stage Investigators: Rare Disease Clinical Research Training Program

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Early Stage Investigators: Rare Disease Clinical Research Training Program

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This is a year long hybrid program that is geared towards individuals working as clinical research assistants/associates/coordinators, as well as final year medical fellows, postdoctoral fellows, and early career faculty. https://www.rarediseasesnetwork.org/research/rare-disease-clinical-research-training-program

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A Standard Multidisiplinary Team in Genetics

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A Standard Multidisiplinary Team in Genetics

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A Multi-Disciplinary Team Approach

The traditional clinical genetics team focuses on diagnosis of genetic disorders and the wider implications for the individual and their extended family. Scientific and technologic discoveries are constantly transforming our understanding of genetic and genomic disorders and impacting the whole of healthcare. Genetic services will likely integrate into all areas of clinical practice. Effective and sustainable integration will require a fluid, flexible and adaptive approach which utilizes a multidisciplinary team of healthcare professionals.

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A Multi-Disciplinary Team Approach The traditional clinical genetics team focuses on diagnosis of genetic disorders and the wider implications for the individual and their extended family. Scientific and technologic discoveries are constantly transforming our understanding of genetic and genomic disorders and impacting the whole of healthcare.

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Get Involved at NORD: Other Opportunities

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Get Involved at NORD: Other Opportunities

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National Organization for Rare Disorders

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It always energizes me to get involved and do more. For lack of time, we often can't be present in all the wonderful projects NORD creates; however, knowing that they are there, and that we have a wide context to work from is always empowering.

-Rachel Gomel, PSC Partners Seeking a Cure

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Get Involved with the Rare Disease Community | NORD

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It always energizes me to get involved and do more. For lack of time, we often can't be present in all the wonderful projects NORD creates; however, knowing that they are there, and that we have a wide context to work from is always empowering.

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A Role for Medical Students in Shaping Rare Disease Care

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A Role for Medical Students in Shaping Rare Disease Care

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Learn about the efforts of some of the first student clubs to focus on rare disease education at their universities and why conducting peer outreach on rare diseases is important. Check out the work of one Chapter here: https://www.raredigmcgill.com/

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Introduction

Contemporary medical education follows the precepts of evidence-based medicine (EBM), favoring decision-making guided by large observational studies and clinical trials and emphasizing heuristics that associate patient presentations with common pathology. This practice is essential to medical education; however, many rare diseases lack sufficient knowledge and data to be prioritized under an EBM framework. Empowering trainees to care for patients with rare diseases is thus an unmet need. Students must learn the skills to make clinical decisions when facing noncanonical disease presentations or conditions for which extant evidence is limited.

Although there is no universally recognized definition of a rare disease, the notion of conditions that individually affect a small portion of the population is well-established across political, legislative, and healthcare frameworks. The European Union (EU) defines rare diseases as those affecting less than 1 in 2000 persons, and the United States considers disorders affecting under 200 000 patients in the country as rare. The World Health Organization (WHO) estimates that 400 million individuals are living with rare diseases., These patients and their families report navigating unique challenges, including limited knowledge, difficulty connecting with other patients and resources, exhausting routes to diagnosis that may take years, and insensitivity among busy providers., These concerns originate at least partly at the level of (pre-)clinical training; in 10 study, 92% of surveyed medical students felt ill-prepared to provide rare disease care. In another study, patients cited inadequate rare disease-specific training of clinicians and healthcare workers as the reason that 78.8% of rare disease patients have received inappropriate care.,, Lymphatic and other vascular anomalies are a particular example of such educational gaps, with the average medical student receiving less than an hour of formal instruction on lymphatic biology over their 4 years of medical training.,

As trainees, we recognize that acquiring medical knowledge is time- and resource-constrained. Information on rare diseases may be scarce and protocols for patient care poorly established. However, future providers must acquire insight into the experiences of rare disease patients and families to be empathetic and trustworthy sources of information, recipients of feedback, and agents of care. This raises the value of devoting attention to rare diseases outside the standard medical curriculum. Medical school represents a critical time during which our career choices are beginning to crystallize, molded by our interactions with peers and patients. We medical students are thus uniquely positioned to shift the paradigm of what we are exposed to in terms of rare, starting with exposure to early-career engagement opportunities. We thus have the opportunity to shape rare disease care and future outcomes. Our hope is that, reciprocally, medical educators support the mission of helping students develop the skills to provide effective care in the face of a paucity of evidence.

Here, we provide examples, including our own experiences, of ways that medical students can collectively improve our ability as healthcare providers to impact the future of rare disease care, as well as ways that curricular activities could support these efforts. In particular, we highlight initiatives organized by a network of medical student groups in the United States and Canada.

Improving medical knowledge

One area for improvement in rare disease care begins with developing adequate vocabulary among trainees; future providers need increased breadth of basic medical knowledge about rare diseases. Accordingly, several rare disease-focused foundations have recognized the value of engaging early investigators and clinicians and now offer a variety of programs to expose learners to clinically relevant information. Global Genes' RARE Compassion Program pairs medical students with individuals living with rare diseases. Meanwhile, in the EU, the Medics4RareDisease (M4RD) charity, led by Dr. Lucy McKay, MD, recently piloted its "Rare Diseases 101," an interactive online module intended to educate trainees and practicing clinicians about rare disease. M4RD's founding is itself a testament to the power and potential of this bottom-up approach, led by medical students, to rare disease advocacy. Dr. McKay, whose brother was affected by a mucopolysaccharide disorder, found herself frustrated by the dearth of educational material taught about rare diseases. Along with four fellow medical students, she founded Medics4Rare with the vision of training current classmates and future colleagues to be open to a rare diagnosis, to know the prevalence of rare conditions, and to be aware of the common challenges individuals and their families face living with rare diseases.

While much of this work has been driven by charities and nonprofits, medical student participation remains limited-the RARE Compassion Program, for example, includes in its current cohort, 100 medical students across 40 medical schools globally. Thus, while an important step, we as future clinicians believe that these efforts must be accompanied by further initiatives. In particular, student-driven efforts are an effective mechanism for engaging peers, patients, and their families in a manner conducive to equitable care of patients with marginalized diagnoses. We believe that student interest groups can not only help advertise opportunities such as the above, with rapid dissemination of information across peer networks, but also themselves provide similar experiences. McGill University, for example, began its Rare Disease Interest Group (RareDIG McGill) in 2017, and became the first of its kind in Canada. The group has, since November 2020, forged collaborations with similar organizations at the University of Pennsylvania (the Penn Medicine Rare Diseases Interest Group), Johns Hopkins University, Georgetown University, and Washington University in St. Louis. Accelerated by the inherently informal nature of student-student collaboration, this rapidly growing network of student groups hosts patient presentations, advocates for discussing rare diseases within our curricula, and shares relevant clinical and research opportunities.

Students are poised to implement systems of supplemental learning that exceed the framework of medical curricula, which are schedule-constrained and can often take significant administrative time and effort to formally modify. For example, medical student leaders of the University of Pennsylvania Rare Disease Interest Group created an elective course held at the University of Pennsylvania featuring rare disease-specific information that parallels each phase of the preclinical curriculum. Inspired by empirical support for peer-assisted learning in medical training, this effort, implemented as of September 2021, is an initial foray into a model of medical education that is supplemented by information that trains students to recognize rare diseases and to be cognizant of the unique needs and experiences of rare disease patients. With periodic surveys administered to assess students' self-perceived preparedness to treat rare disease patients, the elective incorporates continuous feedback to prioritize the most impactful and efficient ways of increasing rare disease literacy among medical students.

Generating and evaluating evidence

In addition to raising awareness among medical students of extant evidence about rare disease, trainees must be prepared to provide effective care given contexts where available evidence is insufficient. As such, efforts must be directed toward supporting processes and practices that will broaden options for rare disease care and streamline its delivery. Medical school curricula emphasize epidemiology and evidence-based clinical practice; including lectures or supplemental material pertaining to decision-making with limited evidence may thus be a pertinent inclusion. Information about research on rare disease could further be incorporated into lectures on medical research and biotechnology-for example, the ethics of "n-of-one" clinical trials, orphan drugs, and their approval.

Meanwhile, opportunities to involve trainees in rare disease research can enable students to directly contribute to the availability of diagnostic and therapeutic options to conditions that remain poorly understood, and in so doing, directly draw the line between basic sciences and clinical reasoning. To this end, rare disease faculty at the Children's Hospital of Philadelphia have begun using a platform developed at the University of Pennsylvania (StepUp, https://stepup.uphs.upenn.edu/) to advertise relevant opportunities to students in a coordinated manner.

For our part, medical students are poised to engage peers in other health-related disciplines. The medical establishment comprises more than just physicians and physicians-in-training; thus interdisciplinary collaboration is critical. Holistic perspectives on rare disease care and involvement of coordinated and integrated medical teams have been established as unmet needs with the potential to improve patient experiences., However, interprofessional education has long been understood to be a limitation of current training, as formal engagement among departments and alignment of strictly separate curricula can be a logistical hurdle for institutions to implement quickly., Medical school is an ideal time to train learners to form the beneficial habit of collaborating with fellow members of the healthcare team. The well-documented hardships that rare disease patients and families encounter during visits to emergency departments is testament to the fact that any investment in rare disease-specific training must also include nurses and other staff. As evidenced by events coordinated in tandem with McGill University's genetic counseling department by RareDIG McGill; projects shared by undergraduates, graduate students in biomedical sciences, and medical and nursing students at the University of Pennsylvania; and seminars held in consort with Georgetown University's Center for Patient Safety, student groups have the unique ability to establish networks, that, while sparked by friendships and social ties, can percolate upward as they blossom into multicenter and multi-institution relationships.

Engaging researchers in particular at the trainee level has the potential to develop lasting and productive cross-talks between basic and clinical realms, sorely needed in the instance of rare disease, where issues pertaining to sparse funding, a paucity of relevant disease models, and small and heterogeneous patient cohorts demand discussion from diverse perspectives., As such, student leadership of the McGill and University of Pennsylvania Groups includes representatives from graduate programs (i.e., PhD facing) in the biomedical sciences. We envision, and have begun to implement, a model of education that extends beyond the classroom, where trainees from nursing, medicine, and research programs within and among institutions can collaborate on projects that may run the gamut from quality improvement to practical ethics, to bench or computational research. Incipient initiatives to establish such a system, if student-driven, can (and must) thus encourage involvement across professional schools. Establishing a unified cross-disciplinary platform at the trainee level will thus be poised to build lasting change.

Understanding the rare disease experience

Availability of evidence and improved knowledge of rare disease physiology should also not diminish the importance of empathy, emotional intelligence, and listening skills that are core to effective clinical practice-and especially important in context of diagnoses for which treatment options may be limited, for which presentations may be severe, and for which patients and families may indeed be (and often are) experts on their own conditions. Accordingly, there is benefit for including rare disease within medical curricular segments pertaining to patient communication and the physician-patient relationship. For example, the University of Leeds' medical school has incorporated patient voices into didactics on communication skills, professional development, and personal conduct-including rare disease patients would help students acquire the soft-skills needed to care for rare diseases. As another example, medical curricula often include standardized patients to help students hone their history-taking and patient-interviewing skills. This represents a further opportunity to provide students with exposure to clinical situations involving rare disease patients. Indeed, Temple University's standardized patient curriculum includes a module on interacting with patients with disabilities, featuring volunteer standardized patients with congenital muscular dystrophy. Ultimately, such initiatives would humanize rare disease, training students to consider, in addition to biological and clinical data, the human that lies beneath.

Conversely, a core aim of the student-driven rare disease initiatives is to inspire hope among patients and families of an improved healthcare future for rare disease patients and their families. Indeed, in addition to prioritizing rare disease in medical education, reciprocally showcasing this training to rare disease communities may develop trust in healthcare among patients and their families. One product of a general lack of knowledge of rare disease among medical professionals is mistrust.,, We envision that keeping patient communities abreast of any changes in the landscape of rare disease care, particularly in the way that budding healthcare professionals are trained to manage historically marginalized diagnoses, is crucial to reversing this. A number of rare disease organizations have implemented programs to educate their members about relevant biomedical advancements, such as KIF1A.ORG's #ScienceSaturdays. With new partnerships with the groups at the University of Pennsylvania and McGill University, these events include and encourage participation by medical students. These run in parallel with patient panel discussions and "Patient Perspective Series" that seek to build dialogue between patients and future providers. Collectively, medical student organizations are actively engaging patient-led groups with the aim of conveying similar progress within the realm of medical education, inspiring hope for the future of rare disease care and establishing a system of feedback from patients that will guide the evolution of training.

Conclusions

It is our belief that, with a global network of trainees dedicated to shaping curricula in a manner attentive to rare diseases, tomorrow's physicians, nurses, and scientists will be poised to magnify the voice of this patient cohort that collectively accounts for nearly one-fifteenth of the world's population.

Acknowledgments

The authors thank Dr. Denise Adams, MD, Dr. Lisa Young, MD, and Dr. Kimberley Steele, MD, PhD, for their guidance, mentorship, and feedback. The authors also thank members of the rare disease-focused student organizations at McGill University, Johns Hopkins University School of Medicine, and Georgetown University School of Medicine for their collaboration and support.

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Spotlighting the Zebras: A Role for Medical Students in... : Journal of Vascular Anomalies

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ting institutions from the United States and Canada who believe that trainees can drive change in the landscape of rare disease care. In addition to highlighting a need for medical education to inculcate the knowledge and skills to effectively care for rare disease patients, we describe our efforts including a combination of peer-assisted learning, patient-oriented outreach, and interprofessional collaboration, which are intended to improve awareness of rare disease among future medical professionals....

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The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network

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The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network

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This article provides a background to the Rare Disease Clinical Research Network (RDCRN) and their partnership with Patient Advocacy Groups.

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Orphanet Journal of Rare Diseases 11, Article number: 66 (2016) Cite this article

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Abstract

Background

Among the unique features of the Rare Diseases Clinical Research Network (RDCRN) Program is the requirement for each Consortium to include patient advocacy groups (PAGs) as research partners. This development has transformed the work of the RDCRN and is a model for collaborative research. This article outlines the roles patients and PAGs play in the RDCRN and reports on the PAGs' impact on the Network's success.

Methods

Principal Investigators from the 17 RDCRN Consortia and 28 representatives from 76 PAGs affiliated with these Consortia were contacted by email to provide feedback via an online RDCRN survey. Impact was measured in the key areas of 1) Research logistics; 2) Outreach and communication; and 3) Funding and in-kind support. Rating choices were: 1-very negative, 2-somewhat negative, 3-no impact, 4-somewhat positive, and 5-very positive.

Results

Twenty-seven of the PAGs (96 %) disseminate information about the RDCRN within the patient community. The Consortium Principal Investigators also reported high levels of PAG involvement. Sixteen (94 %) Consortium Principal Investigators and 25 PAGs (89 %) reported PAGs participation in protocol review, study design, Consortium conference calls, attending Consortium meetings, or helping with patient recruitment.

Conclusions

PAGs are actively involved in shaping Consortia's research agendas, help ensure the feasibility and success of research protocols by assisting with study design and patient recruitment, and support training programs. This extensive PAG-Investigator partnership in the RDCRN has had a strongly positive impact on the success of the Network.

Background

A "rare disease" is defined by the Amendment to the Orphan Drug Act of 1983 as a condition affecting fewer than 200,000 Americans or a disease with a greater prevalence but for which no reasonable expectation exists that the costs of developing or distributing a drug can be recovered from the sale of the drug in the United States [ 1]. Approximately 25 million people in the United States are affected by one or more of an estimated 7000 rare diseases or conditions. These diseases often lead to significant morbidity and mortality.

Research into rare diseases encounters unique challenges to the scientific community, the biopharmaceutical and medical device and diagnostics industries, academic and public sector researchers, government funding agencies, private foundations, regulatory agencies, and patient advocacy groups. These challenges include difficulties in establishing diagnoses, difficulty in recruiting subjects into clinical studies due to small patient populations distributed over wide geographic areas, few expert centers for diagnosis, management, and research, and a scarcity of investigators focused on these rare diseases. These issues continue to be addressed with steady advances being made in the approach to studying rare diseases and, in parallel, substantial interest by the biopharmaceutical industry in developing products for the treatment of rare diseases.

To respond to the challenges of research on rare diseases the NIH Office of Rare Diseases Research (ORDR), now located in the National Center for Advancing Translational Sciences (NCATS), established the Rare Diseases Clinical Research Network (RDCRN) in 2003, in collaboration with six other Institutes and Centers (ICs) and funded 10 Rare Diseases Clinical Research Consortia (RDCRC) and a single Data Management and Coordinating Center (DMCC) for the whole Network [ 2]. The RDCRN was expanded in 2014, in collaboration with ten NIH ICs and currently consists of 22 research consortia and a central DMCC. Each Consortium is required to focus on a group of at least three related disorders, include multiple investigators at multiple sites, and collaborate with patient advocacy groups (PAGs). The RDCRN is unique in its approach to addressing rare diseases as a group, including promoting collaboration with PAGs, and is the first program that promised to create a collaborative and coordinated network of investigators and patient groups to support research into rare diseases.

The RDCRN has proven to be an extremely effective research model to maximize research investigator participation, initiating clinical trials, facilitating patient recruitment with established research partnerships with PAGs at multiple research sites around the world, and enabling pharmaceutical industry and government sponsored clinical research studies to proceed with a supportive infrastructure to complete the studies in a timely fashion [ 3].

Among the unique features of the RDCRN is the requirement for each Consortium to include PAGs as research partners. This mandate has led to the development of a vibrant culture within the Network in which the roles of patients has grown steadily to the current state in which patients are highly engaged in every aspect of the work of the Consortia. This article outlines the roles patients and PAGs play in the RDCRN and reports on data collected to evaluate these roles and their impact on the Network's success.

Background, goals, and organization of the RDCRN

The purpose of the RDCRN is to facilitate multi-site clinical research in rare diseases through support for 1) collaborative clinical research in rare diseases, including longitudinal studies of individuals with rare diseases, clinical studies and/or phase I, II, and II/III trials; 2) training of clinical investigators in rare diseases research; 3) pilot and demonstration projects; 4) a test bed for distributed clinical data management that incorporates novel approaches and technologies for data management, data mining, and data sharing across rare diseases, data types, and platforms; 5) collaboration with PAGs as research partners; and 6) access to information related to rare diseases for basic and clinical researchers, academic and practicing physicians, patients, and the lay public. The RDCRN, with the input from PAGs associated with Consortia, has been successful in providing website resource for education and research in rare diseases for health care providers, patients and their families, the biopharmaceutical and medical device industry, and research investigators [ 3]. Included in the RDCRN is an active Patient Contact Registry to facilitate the recruitment of patients and communications between investigators and patients and their families [ 4- 6]. PAGs have contributed more than 40 % to the total numbers enrolled.

More than 70 PAGs are active participants in the RDCRN. Through the direct engagement of patients, their families and friends, PAGs led to acceptance of these individuals and organizations as research partners and the establishment of the Coalition of Patient Advocacy Groups (CPAG) for the RDCRN. CPAG represents the perspective and interests of all PAGs associated with the RDCRN and includes representatives from every PAG in the RDCRN, has its own governing structure and leadership, and is a major component of the RDCRN with voting privileges on the RDCRN Steering Committee. The RDCRN-CPAG meets annually, at the same time as the RDCRN Steering Committee, and has standing conference calls throughout the year.

Value of patient advocacy groups as research partners

PAGs within the RDCRN are involved as research partners, including helping to recruit for clinical studies, encouraging participation in natural history studies, identifying cohorts of patients with a range of phenotypic expression, and educating patients, public, media and health care providers. Several PAGs provide financial support for research and training programs of RDCRC and patient registries. In addition, PAGs identify research efforts and translate research results to communities, organize and fund research based scientific conferences and meetings for patients/families/caregivers. A few PAGs also provide financial support for patients to travel to clinics to facilitate access to investigators and studies.

Each Consortium in the RDCRN includes relevant PAGs in the Consortium membership and activities and the direct involvement of PAGs in RDCRN operations, activities, and strategy is a major feature of this network.

Methods

Principal Investigators (PIs) from the 17 RDCRN Consortia established at time of this study and representatives from PAGs affiliated with these Consortia were contacted by email and asked to provide feedback via an online RDCRN survey. Two complementary survey tools were developed and implemented in parallel. The first survey focused on investigators' perceptions of the impact of Consortium/PAG collaboration; a second survey, with identical or substantially similar questions, focused on PAGs' perceptions of their impact on the RDCRN. The surveys contained descriptors of the most commonly reported types of interactions.

Both versions of the survey consisted of seven questions. Four multi-part rating scale questions were designed to elicit the perceptions of impact of the RDCRN collaborative research model on achieving research goals from the perspective of the Consortium PI compared with the perceptions of the PAGs. Impact was measured in the key areas of 1) Research logistics, including study design, patient recruitment and administrative support; 2) Outreach and communication, including website design, patient educational meetings and development of educational materials; 3) Funding support for RDCRC activities; and 4) Other non-monetary forms of support. Rating choices were scored as follows: 1-very negative, 2-somewhat negative, 3-no impact, 4-somewhat positive, and 5-very positive. There was also an option for "not applicable." Responses in each category were tabulated for an average score. Average scores for each category were compared between the Consortium PI responses and the PAG responses.

Additionally, two questions asked each respondent to identify the top three benefits and top three challenges of working collaboratively within the RDCRN model from a prepopulated list of 17 topics selected through consensus by representatives of the RDCRN Strategic Planning Committee, the sub-committee of the RDCRN Steering Committee that oversaw the survey project. The final question utilized a free-text answer and provided an opportunity for respondents to include additional commentary regarding experiences with the RDCRN collaborative research model.

Data analysis

Responses were matched by Consortium and then anonymized so as to mask respondents and their assessments. Since there were multiple PAG respondents for several Consortia, the median response was used to pair with the corresponding Consortium response. Analyses were descriptive and both means and medians calculated. As the responses were on a Likert-type scale ranging from 1 to 5, medians are generally considered the best measure of central tendency, but means are also presented. On an interval scale, medians are also less affected by outliers and the difference can be interpreted as to the extent there are wide variations in response. As these are purely descriptive data with a high degree of concordance, no attempt was made to test whether or not the row and column marginal frequencies are equal.

Results

All 17 Consortia PIs and 28 of 76 PAGs associated with the RDCRN completed the survey, with at least one PAG representing each Consortium (range 1-3). Except for one, the responding PAGs were established before 2010, with 13 established before 1990. There was a large range in the number of patient/families served by these PAGs and the reported numbers were equally split between less < 1000, 3000-5000, and ≥10,000. 50 % of responding PAGs reported a financial capacity of more than $1 million, and all but 6 reported having their own research funding program. The Consortia PIs reported that 82-100 % of their affiliated PAGs (not just of those who responded to the survey) collaborated on the specific items listed while 48-96 % of the responding PAGs reported collaboration along these same dimensions (Table 1).

Interactions

The most commonly reported interactions between Consortia and PAGs were those that involved communication and outreach to the patient community. Nearly all PAGs (27/28, 96 %) disseminate information about Consortium activities within the patient community via their PAG websites, newsletters, and other forms of communication. All PIs and 86 % of PAGs include updates for their associated Consortium during their PAG meetings. Most PIs (88 %) and PAGs (82 %) also provide patients with educational materials related to Consortium activities. The areas in which the PAGs reported less collaboration included providing partial or full funding of Consortium trainees (46 %), administrative support to the Consortium (50 %), direct funding to the Consortium (57 %), logistical support to the Consortium for meetings (64 %), and review of study forms and other study related documents (68 %).

The Consortium PIs also reported high levels of PAG involvement in Consortium research activities. Sixteen of the 17 (94 %) Consortium PIs and 25 of the 28 (89 %) responding PAGs reported PAG participation in protocol review, study design, Consortium conference calls, attending Consortium meetings, or helping with patient recruitment. These data suggest active PAG involvement in shaping the Consortia's research agenda and contributing to ensuring the feasibility and success of research protocols by assisting with patient recruitment. Additionally, 82 % of PIs and 64 % of PAGs indicated that the PAGs provided logistical or administrative support to their Consortium.

All but one PAG indicated that they played an active role in communicating Consortium activities to their membership through social media, newsletters and other means. These are the primary means by which PAGs mobilized their membership to enhance recruitment efforts. A substantial percentage (82-86 %) of PAGs provided time at their meetings for presentation and discussion of Consortium activities and dissemination of educational materials developed by their affiliated Consortium. A similar percentage (79 %) of PAGs also contributed to the Consortium website development. In the RDCRN, each Consortium maintains a public-facing web presence to communicate to the larger community of investigators, care givers, and patients about the Consortium's specific collection of rare diseases.

Thirteen (76 %) PIs indicated that their Consortia receive direct funding from one or more of their associated PAG(s). In all but one instance, this support included partial or full funding of RDCRN trainees (including travel to meetings). Nine of the 13 (69 %) Consortium PIs reported that they have received a total of at least $100,000 from their associated PAGs. One PAG has provided $2.25 million in direct financial support for a Consortium's activities. Two (12 %) Consortium PIs reported the level of support to be between $10,000 and $49,000, and 2 did not indicate a level of funding. Eighteen of the 28 (64 %) PAGs responding indicated they provide funding support for Consortium meetings/activities. In addition to direct funding, 17 of the 28 (61 %) PAGs provide in-kind support for Consortium activities, such as mailings or office staff. One of the four Consortia that did not receive direct funding reported that they received in-kind support.

Impact

When PAG responses were compared to those from the PI of their affiliated consortium, there was a high degree of concordance (Table 2). Averaging over all questions, there were no Consortia responses less than "somewhat positive" (a score of 4.0) and 14 of 17 ranked the interaction as "very positive" (a score of 5.0). For the Consortium PIs, the ratings ranged from a mean of 3.8 ("provide administrative support to a Consortium," the only item in which the mean was less than 4.0) to 4.9 ("provide educational materials related to Consortium activities for patient community"). Similarly, only 1 of the 17 Consortia received an average score across all responses of 3 ("no impact"), the remainder were either "very positive" or "somewhat positive" (9 and 7, respectively). The item that received the lowest PAG rating, with a mean score of 3.9, was "contribute to Consortium website design and content." That was the only item in which the mean was less than 4.0) and the item with the highest mean rating for impact was 4.8 ("attend Consortium investigator meetings").

When asked to rank the top three benefits accrued to the Consortium through their interactions with PAGs (Table 3), the most frequently cited benefits were help with patient recruitment for RDCRN studies (11 of 15 respondents, 73 %), communication of Consortium activities within the patient community (6 of 15 respondents, 40 %), and providing direct funding to the Consortium (4 of 15 respondents, 27 %). The top three benefits for the PAGs were participation in Consortium conference calls (15 of 28 respondents, 54 %), inclusion in Consortium activities (14 of 28, 50 % or respondents), and help with patient recruitment for RDCRN studies (13 of 28 respondents, 46 %). The other benefits reported were distributed widely across respondents with 3 or fewer Consortia and 6 or fewer PAG respondents emphasizing their benefit.

All respondents were also asked to provide feedback on their top 3 challenges in working collaboratively (Table 4). These choices were drawn from the same list as the benefits, and reflecting those results, the top challenge for Consortia PIs was funding (4 of 15 responses) and, for PAGs, desire for input into protocol development (6 of 26 responses).

Table 5 contains the individually-reported comments from the Consortium PIs and the PAGs to give a broader flavor of the nature of the interactions.

Discussion

This study describes the successful approaches and common challenges in directly engaging patients and PAGs with investigators in the creation, growth, and productivity of multicenter research groups involved in clinical research in rare diseases. The ten-year experience of the RDCRN has been one of great success and scientific productivity. The RDCRN investigators, affiliated PAGs and patient leaders, ORDR-NCATS and collaborating Institutes' program staff at NIH, and other key stakeholders all agree that the substantial partnership and involvement of patients, from the start, has been a major factor in the success of the Network and helped the Consortia conduct important research in a large of number of rare diseases. The investigator-patient partnership has contributed to the development of the Network on multiple levels and patients and PAGs have been involved in research in the RDCRN in a wide variety of ways.

The results of this study describe numerous ways in which PAGs and RDCRN investigators work together towards common goals for many different types of studies. This degree of involvement by PAGs is not typical of most NIH-funded research. There was strong agreement among both PAG representatives and RDCRN investigators that these collaborations usually had a positive impact.

One of the major challenges for any clinical study is recruitment of appropriate participants in a timely manner. Through their existing web sites and often regular patient support group meetings, the PAGs positively influence recruitment for clinical studies by educating potential participants about the value of clinical studies in general, advertising specific studies directly, answering questions about specific studies, and providing feedback on outcomes in some cases. In view of these factors, it is not surprising that communication and outreach were ranked among the most impactful aspects of interaction by both PAGs and RDCRN investigators.

In many cases, PAGs have a direct influence on the types of scientific projects that are initiated by providing direct funding for specific projects or specific investigators. The investigators, in turn, sometimes provide advice on independent scientific projects that the PAGs may be considering through service on their scientific advisory boards. Additionally, many PAGs recognize the importance of attracting a new generation of investigators and they often provide financial support for trainee-led research projects or trainee attendance at Consortium or other relevant meetings. All of these activities were also rated as having important impact by both PAGs and RDCRN investigators.

The RDCRN, with the input from PAGs associated with Consortia, has been successful in providing website resource for education and research in rare diseases for health care providers, patients and their families, the biopharmaceutical and medical device industry, and the research investigators. Many PAGs have at least some educational material on their web sites, brochures, or newsletters, and the RDCRN Consortia have similar educational material on their web sites. A close collaboration between PAGs and investigators can be useful in confirming the accuracy of the information provided and ensuring the language used is written at a level and in a style accessible to most patients and their families.

An important and unique component of the RDCRN is an active Patient Contact Registry to facilitate the recruitment of patients and communications between investigators and patients and their families. PAGs are the single largest source of referrals to the Patient Contact Registry [ 7, 8].

The experience of the RDCRN and the data presented in this study demonstrate that direct patient engagement in the development of research networks and design and conduct of research projects is feasible, and highly regarded in the conduct of clinical research in rare diseases. PAGs are ready, willing, and able to participate in all aspects of research, including study design, recruitment, research prioritization, funding strategies, and dissemination of research results. The support and direction provided by the Office of Rare Diseases Research within the NCATS for the RDCRN was also essential for the development of the investigator-patient partnerships. The experience of the RDCRN can be applied to other groups studying rare diseases and to groups studying more common disorders. RDCRN principal investigators and leaders of the associated PAGs all agree that the quality, quantity, efficiency, and pace of clinical research in rare diseases is greatly enhanced by the types of investigator-patient partnerships that have developed within the RDCRN.

These results are consistent with other studies of patient engagement [ 9- 12]. Those studies also identified the key role that PAGs play in patient recruitment identified by academic researchers and PAGs alike, reflecting the highly positive results of PAG interactions with investigators. This study adds to that literature by highlighting the area of communication and dissemination of study results. However, these results differ from the CTTI report [ 9] that also found patient group respondents valued their contributions to research protocol development, funding, and interpretation of study results more highly than those contributions were valued by academic respondents. This RDCRN study found that these components of interaction were generally equally rated in terms of impact and importance by PAGs and Consortium PIs. The reluctance to share information perceived by investigators and patient group members in the CTTI study was not found in this RDCRN study in which PAGs were seen as playing an important role in dissemination of information and study results. This may be due to the way that PAGs have been integrated from the start into RDCRN Consortium activities and are consulted in study design and development. Through monthly RDCRN-CPAG conference calls and annual in-person meetings, PAGs also have the opportunity to share their experiences, learn from each other, and gather information about resources and scientific programs at ORDR, NCATS, and other Institutes of NIH.

The RDCRN has utilized its strong platform for collaboration between PAGs and investigators to produce a highly productive synergy that can serve as a model of patient engagement in conducting clinical research, especially in rare diseases. Additionally, this development of substantial patient engagement has transformed the work of the RDCRN and is a model for collaborative research.

Conclusions

Results suggest active involvement by PAGs contribute to shaping Consortias' research agendas and contribute to ensuring the feasibility and success of research protocols by assisting with patient recruitment. This extensive involvement is the basis for the positive impact of PAG-Investigator partnership in the RDCRN.

Ethics approval

The survey was reviewed and approved by the University of South Florida Institutional Review Board. The Institutional Review Board approved a waiver of the requirements for the documentation of informed consent.

Availability of data and material

Consistent with the Rare Diseases Clinical Research Network's data sharing policy, data sets will be available on the Rare Diseases Clinical Research Network Public Website ( www.rdcrn.org).

References

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Acknowledgements

The RDCRN Steering Committee is aware of and has approved publication of this manuscript in this journal. The contents are solely the responsibility of the authors and do not necessarily represent the official views of NCATS. The views expressed in written materials or publications do not necessarily reflect the official policies of the Department of Health and Human Services.

The authors would like to acknowledge the following individuals for their collaboration and contributions to survey and manuscript preparation: Hannah F. Fitterman (Data Management and Coordinating Center, NS064808), Laura Gandolfo (Data Management and Coordinating Center, NS064808), Jennifer L. Harris (Data Management and Coordinating Center, NS064808), Carol A. McAlear (Vasculitis Clinical Research Consortium, AR057319).

The authors would like to acknowledge the following individuals for their collaboration and contribution of data: Amy Akers (Angioma Alliance), Janice Ascano (Rettsyndrome.org), Karen Ball (The Sturge-Weber Foundation), Mark L. Batshaw (Urea Cycle Disorders Consortium, HD061221), David Brenner (Dysautonomia Foundation, Inc.), Marianne Clancy (HHT Foundation International), Morton J. Cowan (Primary Immune Deficiency Treatment Consortium, AI082973), Robert J. Desnick (Porphyrias Consortium, DK083909), Jane Dion (Churg Strauss Syndrome Association (CSSA)), Adel K. El-Naggar (Salivary Gland Carcinomas Consortium), Janalee Heinemann (Prader-Willi Syndrome Association (USA)), Janet Hieshetter (Dystonia Medical Research Foundation), Michio Hirano (North American Mitochondrial Disease Consortium, NS078059), Kim Hollander (Oxalosis and Hyperoxaluria Foundation), Mary Hurley (Chronic Granulomatous Disease Association), Myra Jacobs (National Bone Marrow Transplant Link), Kathryn Jewell (Cystinuria Support Network), Jack Johnson (Fabry Support & Information Network), Steven Kaminsky (Rettsyndrome.org), Jeffrey Kaufman (Adenoid Cystic Carcinoma Research Foundation), Michael R. Knowles (Genetic Disorders of Mucociliary Clearance Consortium, HL096458), Matthias Kretzler (Nephrotic Syndrome Study Network, DK083912), Joyce A. Kullman (Vasculitis Foundation), Kimberly Kuman (National Spasmodic Dysphonia Association), Michael T. Lawton (Brain Vascular Malformation Consortium, NS065705), Stephanie J. Lee (Chronic Graft Versus Host Disease Consortium, CA163438), Cynthia Le Mons (National Urea Cycle Disorders Foundation), Desiree Lyon Howe (The American Porphyria Foundation), Dawn S. Milliner (Rare Kidney Stone Consortium, DK083908), Charles A. Mohan Jr. (The United Mitochondrial Disease Foundation), Robin NeJame (APRT Deficiency Support Network), Paige Nues (Rettsyndrome.org), Elizabeth Ouellette (Charcot-Marie-Tooth Association), Alan K. Percy (Angelman, Rett, & Prader-Willi Syndromes Consortium, HD061222), Jean Pickford (Foundation for Ichthyosis & Related Skin Types, Inc), Nilda Rendino (Benign Essential Blepharospasm Research Foundation (BEBRF)), Jean-Baptiste Roullet (Sterol and Isoprenoid Diseases Consortium, HD061939), Hrafnhildur Runolsdottir (APRT Deficiency Support Network), Michael E. Shy (Inherited Neuropathies Consortium, NS065712), Heather Smith (SCID Angels for Life), Robert D. Steiner (Sterol and Isoprenoid Diseases Consortium, HD061939), Dean Suhr (MLD Foundation), Barbara Wedehase (National MPS Society), Chester B. Whitley (Lysosomal Disease Network, NS065768).

Funding

The RDCRN, an initiative of the Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Sciences (NCATS), is funded and supported by NCATS, in collaboration with the National Institute of Child Health and Human Development (NICHD), the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), the National Institute of Neurological Disorders and Stroke (NINDS), the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), the National Institute of Allergy and Infectious Diseases (NIAID), the National Cancer Institute (NCI), the National Heart, Lung and Blood Institute (NHLBI), the National Institute of Dental and Craniofacial Research (NIDCR), the National Institutes of Mental Health (NIMH), and the Office of Dietary Supplements (ODS). The authors represent the Data Management and Coordinating Center (NS064808) 7 and the following consortia of the RDCRN: Vasculitis Clinical Research Consortium (AR057319) 1, Genetic Disorders of Mucociliary Clearance Consortium (HL096458) 2, Dystonia Coalition (NS065701, TR001456) 5, and Autonomic Rare Diseases Clinical Research Consortium (NS065736) 6.

Author information

Authors and Affiliations

Division of Rheumatology and Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA, USA

Peter A. Merkel

PCD Foundation, Minneapolis, MN, USA

Michele Manion

Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Sciences (NCATS), National Institutes of Health, Bethesda, MD, USA

Rashmi Gopal-Srivastava

National Center for Advancing Translational Sciences (NCATS), National Institutes of Health, Bethesda, MD, USA

Stephen Groft

Departments of Neurology, Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, GA, USA

H. A. Jinnah

Departments of Medicine, Pharmacology, and Neurology, Clinical Research Center, Vanderbilt University, Nashville, TN, USA

David Robertson

Health Informatics Institute and Department of Pediatrics, University of South Florida, 3650 Spectrum Boulevard, Tampa, FL, 33612, USA

Jeffrey P. Krischer

Consortia

for the Rare Diseases Clinical Research Network

Corresponding author

Correspondence to Jeffrey P. Krischer.

Additional information

Competing interests

The authors declare that they have no competing interests.

Authors' contributions

The primary writing was done by PAM, RG-S, and JPK. All co-authors participated in concept, manuscript design, review and editing. PAM, MM, HAJ, and DR also completed the online RDCRN survey as a part of this study. All authors read and approved the final manuscript.

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Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
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Merkel, P.A., Manion, M., Gopal-Srivastava, R. et al. The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Orphanet J Rare Dis 11, 66 (2016). https://doi.org/10.1186/s13023-016-0445-8
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Keywords

Rare diseases

Patient engagement

Network

# data[].attributes.attachment_link.title
The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network - Orphanet Journal of Rare Diseases

# data[].attributes.attachment_link.description
Background Among the unique features of the Rare Diseases Clinical Research Network (RDCRN) Program is the requirement for each Consortium to include patient advocacy groups (PAGs) as research partners. This development has transformed the work of the RDCRN and is a model for collaborative research.

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Rare disease patients and advocates rare awareness about rare diseases and the importance of rare disease research through creative media.

# data[].attributes.attachment_link.provider_name
National Center for Advancing Translational Sciences

# data[].attributes.attachment_link.readable_text
"When I was 24 years old, about 2 years ago, I was diagnosed with the rare disease known as Friedreich's Ataxia (FA). When my dreams of playing a sport in college ended, I needed something else to apply myself to. This began my journey as a hip-hop and spoken word artist. When I was diagnosed, it felt as though my dreams for the future had died. In many instances, I felt like giving up on my journey as an artist. Instead, I now have a new vision for my art: both to encourage those who are challenged, whether with rare disease or in general, and to raise awareness for rare disease."

"I wanted to take the 'Rare Diseases Are Not Rare' Challenge and to face it head on. Not knowing much about rare diseases myself, I found that I was able to utilize information about rare diseases to create a video that would educate the general public about just how common 'rare' diseases actually are."

"Often, when someone from the general public hears the phrase 'rare disease,' they conceive of a tiny segment of the population and assume that rare diseases don't rise to the level of a public priority. This entry seeks to address the problem of the general population thinking about rare diseases in isolation by introducing the basic but fundamental facts about rare diseases in a digestible and engaging way."

Honorable Mentions

(in alphabetical order)
A Concept for a "Rare Disease Photo Challenge"
To help raise awareness about rare diseases, this proposed social media challenge would ask people who see the "Did You Know?" image on social media to participate by posting a photo of themselves along with one of the commonly used misnomers shown in the poster - such as a piece of French toast or a guinea pig - and tagging friends to spread the word!

Learn about team member Ramona Behshad, M.D., and how rare diseases research has impacted her life.
"Funding Inequality"
This infographic raises awareness by depicting the difference in funding between research on rare diseases and research on cancer.
"Life, Love, and Rare Disease"
The short video connects the viewer to the life behind a rare disease diagnosis, provides information about the prevalence of rare diseases and shows the impact research can have on the quality of life for patients and families.
"NCATS Rare Diseases Are Not Rare!"
This poem is from the perspective of a person with a rare disease. It includes references to multiple diseases to help many people with rare diseases feel understood. The quilt featured in the video was donated to the person who inspired the project.
"The Rare Majority Project"
The photos and quotes help raise awareness of rare diseases and the experiences of people affected by them. Team members involved in the Rare Majority Project collaborate with members of the rare diseases community by conducting interviews and sharing photos on social media with the hashtag #RareMajority.

Learn about team member Rachael Baker, Ph.D., and why she encourages people to get involved with rare diseases research.

# data[].attributes.attachment_link.title
NCATS Rare Diseases Are Not Rare! 2020 Challenge Winners and Honorable

# data[].attributes.attachment_link.description
"When I was 24 years old, about 2 years ago, I was diagnosed with the rare disease known as Friedreich's Ataxia (FA). When my dreams of playing a sport in college ended, I needed something else to apply myself to. This began my journey as a hip-hop and spoken word artist.

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A mother's experience working with a Palliative Care team to care for her child with Dravet Syndrome. https://magazine.medlineplus.gov/article/comfort-care-for-kids-and-their-families-a-mothers-story

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How 2 rheumatologists work with a multidisciplinary team to help patients with Juvenile Dermatomyositis (JDM): https://give.ucsfbenioffchildrens.org/stories/next-level-rare-disease-care

# data[].attributes.headline
Barriers to Rare Disease Diagnosis, Care, and Treatment

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Barriers to Rare Disease Diagnosis, Care, and Treatment

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A perspective piece describing one woman's long diagnostic journey to running a patient advocacy group for her rare condition

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What is the Orphan Drug Act and what has been its impact?

# data[].attributes.headline
Rare (Orphan) Diseases & Orphan Products

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Rare (Orphan) Diseases & Orphan Products

# data[].attributes.body
A brief summary highlighting important aspects of the rare disease community - Orphan drugs & patient advocacy groups

# data[].attributes.attachment_link.readable_text
Jumping Frenchmen of Maine sounds like an uproarious, modern-day stage show or even a new wave rock group. But it's neither. It's the name of an unusual disorder that causes an extreme startle reaction to unexpected noises or sights. Though little is known about Jumping Frenchmen of Maine, the disorder and more than 6,000 other rare or "orphan" diseases are receiving increasing attention from the government, patient groups, and the pharmaceutical industry.

An orphan disease is defined as a condition that affects fewer than 200,000 people nationwide. This includes diseases as familiar as cystic fibrosis, Lou Gehrig's disease, and Tourette's syndrome, and as unfamiliar as Hamburger disease, Job syndrome, and acromegaly, or "gigantism." Some diseases have patient populations of fewer than a hundred. Collectively, however, they affect as many as 25 million Americans, according to the National Institutes of Health (NIH), and that makes the diseases--and finding treatments for them--a serious public health concern.

Most Inherit Orphan Diseases

New rare diseases are discovered every year. Most are inherited and caused by alterations or defects in genes (mutations). Others can be acquired as a result of environmental and toxic conditions. Genes are pieces of DNA, part of the code that determines the traits and individual characteristics of all living things. Each human cell contains around 30,000 genes. Besides influencing features such as eye and hair color, genes also can play a role in the development of diseases and in their transmission from parent to child.

As disparate as rare diseases are, patients share many common frustrations. For example, for one-third of people with a rare disease, getting an accurate diagnosis can take one to five years. And people often are so isolated that they may never know anyone else with the same disease. Patients often must travel long distances to visit the few doctors knowledgeable about their illnesses, and the costs involved with diagnosis, treatment, and other related expenses can be exorbitant.

Managing Rare Diseases

Many rare diseases or conditions can be difficult to diagnose and manage because in their early stages, symptoms may be absent or masked, misunderstood, or confused with other diseases.

For example, adrenomyeloneuropathy (AMN), one of a group of genetically determined progressive disorders known as leukodystrophies that affect the brain, spinal cord, and peripheral nerves, is often misdiagnosed as multiple sclerosis (MS), according to the United Leukodystrophy Foundation. Since diagnosis of neurological conditions relies on subtle and circumstantial evidence, even the most experienced clinicians may have difficulty distinguishing between the two. For rare disease patients, there may be no cures, but treatments of the symptoms can help. Participating in a clinical trial may be a way to receive the most advanced care for some diseases. People who experience unexplained symptoms, recurrent infections, and pain that have gone undiagnosed for a long period of time might want to visit a referral center that is experienced in diagnosing patients with rare diseases. Some rare diseases do not have clearly defined treatment guidelines and require the specific skills of an expert physician. Be sure to go to a hospital that is familiar with treating people with multiple problems.

Adopting the 'Orphans'

Before the passage of rare disease laws in the United States, patients diagnosed with a rare disease were denied access to effective medicines because prescription drug manufacturers rarely could make a profit from marketing drugs to such small groups. Consequently, the prescription drug industry did not adequately fund research for orphan product development. Other potential sources, such as research hospitals and universities, also lacked the capital and business expertise to develop treatments for small patient groups. Despite the urgent health need for these medicines, they came to be known as orphans because companies were not interested in adopting them.

This changed in 1983 when Congress passed the Orphan Drug Act (ODA). The ODA created financial incentives for drug and biologics manufacturers, including tax credits for costs of clinical research, government grant funding, assistance for clinical research, and a seven-year period of exclusive marketing given to the first sponsor of an orphan-designated product who obtains market approval from the Food and Drug Administration for the same indication. At the same time, federal programs at the FDA and the NIH began encouraging product development, as well as clinical research for products targeting rare diseases.

Since 1983, the ODA has resulted in the development of more than 250 orphan drugs, which now are available to treat a potential patient population of more than 13 million Americans. In contrast, the decade before 1983 saw fewer than 10 such products developed without government assistance. As a result of the ODA, treatments are available to people with rare diseases who once had no hope for survival.

"A lot of people are affected," says Marlene E. Haffner, M.D., M.P.H., director of the FDA's Office of Orphan Products Development (OOPD). "That makes it a major public health impact, and in time, we're going to see even more rare diseases requiring treatment."

Despite the success of the ODA, however, rare disease advocacy groups argue that the plight of people with orphan diseases deserves even more attention.

Patient Support Groups

Rare diseases affect so few people that information about them may be difficult to find, making the situation more traumatic and stressful. Before Congress enacted the ODA, families coping with a rare disease usually struggled alone. Support could only be found through telephone calls to other families suffering with similar diseases, and only if the names were provided by doctors.

Support groups such as the National Organization for Rare Disorders (NORD) have worked aggressively in the last 20 years to draw attention to people with rare diseases, and especially to the lack of treatment options. Paramount in NORD's ongoing cause are efforts to promote legislation, such as the ODA, that encourages further research and continuing development of products that are necessary--and often life-saving--and to provide easier access to such treatments.

The role of the support group is evolving. Recent trends at the FDA and the NIH in encouraging scientists to become involved with patient support groups has brought research even further.

New Web-based support groups continue to proliferate. Not only are people receiving comfort from others with the same conditions, but they are learning from each other's experiences as well. By the late 1990s, most nonprofit organizations had Web sites where people could ask questions and get immediate responses.

Nevertheless, people diagnosed with a rare disease often are vulnerable to misguided assistance. While Stephen C. Groft, Pharm.D., director of the NIH's Office of Rare Diseases, encourages people to use the Internet to find information, he also warns that it is dangerous to rely solely on the computer for medical advice.

"Be cautious about unproven remedies and miracle cures being touted over the Internet," he says. Too often misleading or inaccurate information is given out that can do more harm than good. In addition, one person's experience may vary greatly from another's. The Internet, he adds, should complement the communication between patients and their doctors, not replace it.

For More Information

Food and Drug Administration
Office of Orphan Products Development
(301) 796-8660
http://www.fda.gov/ForIndustry/DevelopingProductsforRareDiseasesConditions/default.htm

National Institutes of Health
Office of Rare Diseases, 6100 Executive Blvd., Room 3B01, Bethesda, MD 20892-7518
(301) 402-4336
http://rarediseases.info.nih.gov/ National Cancer Institute

Cancer Information Service
(800) 4-CANCER (422-6237)
www.cancer.gov

National Organization for Rare Disorders
55 Kenosia Ave., PO Box 1968, Danbury, CT 06813-1968
(800) 999-6673
www.rarediseases.org

The Genetic and Rare Diseases Information Center
PO Box 8126, Gaithersburg, MD 20898-8126
(888) 205-2311TTY: (888) 205-3223
www.genome.gov/health/

ResourcesForYou

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Orphan Products: Hope for People With Rare Diseases

# data[].attributes.attachment_link.description
Jumping Frenchmen of Maine sounds like an uproarious, modern-day stage show or even a new wave rock group. But it's neither. It's the name of an unusual disorder that causes an extreme startle reaction to unexpected noises or sights.

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Impact of Rare Diseases on Patients and Healthcare Systems

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Impact of Rare Diseases on Patients and Healthcare Systems

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From the National Institute of Health - IDeaS (Impact of Rare Diseases on Patients and Healthcare Systems) Pilot Study

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The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems - Orphanet Journal of Rare Diseases

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Background Rare diseases (RD) are a diverse collection of more than 7–10,000 different disorders, most of which affect a small number of people per disease. Because of their rarity and fragmentation of patients across thousands of different disorders, the medical needs of RD patients are not well re…

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Educational Videos discussing various topics that are prevalent in the rare disease community

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Share your videos with friends, family, and the world

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Interviews with Rare Disease Patients sharing their stories

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Interviews with rare disease patients sharing their stories.

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Get involved in one of our departments, from Policy and Advocacy, to Education and Research

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National Organization for Rare Disorders

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Year-round and summer internship positions with NORD provide meaningful opportunities to make a difference, apply your skills, and gain professional experience.

Imagine working side-by-side with a passionate team that is leading efforts in health policy, patient advocacy, research, public awareness, patient care, and nonprofit management. If this sounds like something you are interested in, we would love to hear from you.

Internships may be available in the following areas:

Policy and Government Affairs

Grassroots Advocacy

Volunteer Services

Development/Fundraising

Marketing and Public Relations

Medical Outreach

Events

Research

Education

Join our talent community and search current openings

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Year-round and summer internship positions with NORD provide meaningful opportunities to make a difference, apply your skills, and gain professional experience. Imagine working side-by-side with a passionate team that is leading efforts in health policy, patient advocacy, research, public awareness, patient care, and nonprofit management.

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Don't have a Students for Rare Chapter? Start one!

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Don't have a Students for Rare Chapter? Start one!

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Chapters and Clubs can be created at the high school, undergraduate, and graduate/professional level. In addition, for news to keep up-to-date on the latest in Rare Diseases, you can also subscribe to the Students for Rare Newsletter: https://confirmsubscription.com/h/j/C1C6BB35C81CAF4B

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National Organization for Rare Disorders

# data[].attributes.attachment_link.readable_text
If you are a high school or college student who wants to become involved helping people with rare diseases live better lives, we have a great program for you. Students for Rare unites students of all disciplines to spread awareness of rare disease and explore future opportunities working with the rare disease community.
Apply Now

Benefits

By joining a Students for Rare chapter or starting a new one, you receive the following benefits:

Priority for scholarships to our annual Rare Disease & Orphan Product Breakthrough Summit and Living Rare, Living Stronger Patient & Family Forum

Networking opportunities with other students around the country

Promoting your major campus events and achievements on NORD's social media channels

Working on special projects for NORD

Accessing educational opportunities such as special webinars and student meetings specifically designed for students in the Students for Rare program

Branding your club with the NORD Students for Rare Chapter logo on your materials and social media channels

Leadership experience and networking opportunities

Building your resume

Knowing that you're making a difference by helping people with rare diseases

Chapter Requirements

Host at least 3 campus events to promote rare disease awareness and education on campus

Become a registered student group on campus

Have a faculty advisor

Have at least 4 student members

Adhere to the NORD Chapter Constitution and Bylaws

Submit an annual report summarizing the activities of the previous academic year

Current Chapters

Calvin University

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Quarterly Student Newsletter

Sign up for our free quarterly newsletter to high school, undergraduate, and graduate level students. It includes opportunities to get involved, educational resources, and advice for pursuing careers in the rare disease space.
Sign up for student newsletter

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If you are a high school or college student who wants to become involved helping people with rare diseases live better lives, we have a great program for you. Students for Rare unites students of all disciplines to spread awareness of rare disease and explore future opportunities working with the rare disease community.

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Start or Join an ACMG Student Interest Group to increase your knowledge of medical genetics and genomics!

# data[].attributes.headline
ASHG: Rare Diseases - From Discovery to Diagnosis to Treatment

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ASHG: Rare Diseases - From Discovery to Diagnosis to Treatment

# data[].attributes.body
A fact sheet from the American Society of Human Genetics

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A video series by the American College of Medical Genetics detailing various careers in genetics

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A fascinating new video series from the American College of Medical Genetics (ACMG) about why Medical Genetics is a fulfilling and flexible medical career. E...

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Learn about Medical Genetics from the ACMG

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Are you interested in a career in which you will always be learning, in a field that is constantly expanding in ways that advance healthcare and improve the lives of patients, families and communities? If the answer is yes, medical genetics and genomics might be the right career for you!

Medical geneticists work at the intersection of research and clinical care, in a variety of professional and practice settings. Across the board, medical geneticists will tell you that their careers are engaging, challenging and rewarding.

Scientific and technologic discoveries are constantly transforming our understanding of genetic and genomic disorders and impacting almost every medical specialty. This rapid expansion of knowledge about the genetic and genomic basis of disease is bringing powerful new diagnostic, health management and treatment capabilities to patient care and public health and increasing the demand for medical genetics professionals in clinical and laboratory settings, in academia, government and industry.

There has never been a better time to be a medical geneticist. Every member of the medical genetics healthcare team, including clinical geneticists, laboratory geneticists, genetic counselors, nurses, physician assistants and so many more, plays an important part in caring for patients and their families. Below, we outline a few of the most common career pathways in medical genetics and genomics.

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American College of Medical Genetics and Genomics

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Are you interested in a career in which you will always be learning, in a field that is constantly expanding in ways that advance healthcare and improve the lives of patients, families and communities? If the answer is yes, medical genetics and genomics might be the right career for you!

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To find out more about this exciting career, visit https://padlet.com/snm_sig/genetic-counseling-prospective-student-resources-tb434in81aif57oh

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Genetic counselors are not doctors, but they are an important part of your healthcare team.

Genetic counselors can meet with individuals or families before or after genetic testing.

Genetic counselors are specialized in prenatal, pediatric, oncology, neurology, ophthalmology, psychiatry, and many other areas.

Many genetic counselors are able to see patients via telehealth options.

In addition to different specialty areas, genetic counselors can have roles outside of seeing patients. Genetic counselors can work in research, education, industry, marketing, and many other roles across the healthcare and genetics fields.

Many things about you are partly or entirely determined by your DNA, and more specifically by tiny variations in sections of your DNA called genes, which you inherited from your parents. Your genes can also increase your risk of developing certain health conditions, including certain types of cancer or heart disease. Genetics is the study of these genes and of your heredity.

Genetic counselors have advanced training in medical genetics and counseling to guide and support patients seeking more information about how inherited diseases and conditions might affect them or their families, and to interpret genetic test results based on your personal and family history.

You may be referred to a genetic counselor by a doctor (such as an obstetrician, oncologist or medical geneticist) to discuss your family history and genetic risks, or before or after having genetic testing. While genetic counselors are not medical doctors, they are part of your healthcare team and work with you and your doctor to help you understand:

Your genetic risks based on your family history

Your genetic risks for certain diseases or cancer

Whether genetic testing might be right for you

What the results of genetic tests may mean for you and your family

With expertise in counseling, genetic counselors can also provide emotional support as you make decisions and empower you with information for your overall healthcare.

For more information about becoming a genetic counselor, including why you might see a genetic counselor, preparing for an appointment and more, please visit NSGC's patient-focused site here.

# data[].attributes.attachment_link.description
Genetic counselors are not doctors, but they are an important part of your healthcare team. Genetic counselors can meet with individuals or families before or after genetic testing. Genetic counselors are specialized in prenatal, pediatric, oncology, neurology, ophthalmology, psychiatry, and many other areas. Many genetic counselors are able to see patients via telehealth options.

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Read about the stories of individuals living with a rare diseases

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National Organization for Rare Disorders

# data[].attributes.attachment_link.title
Rare Disease News - National Organization for Rare Disorders

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NORD is a registered 501(c)(3) charity organization. Please note that NORD provides this information for the benefit of the rare disease community. NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments.

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Short Video describing 10 facts about Rare Diseases

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National Organization for Rare Disorders

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NORD's Rare Disease Video Library provides brief introductions to rare disease topics for patients and caregivers. NORD collaborates with medical experts, patient organizations and videographers to develop the videos, which are made possible by individual donations, educational grants, and corporate sponsorships. NORD is solely responsible for the content.

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Rare Disease Facts and Statistics | NORD

# data[].attributes.attachment_link.description
NORD's Rare Disease Video Library provides brief introductions to rare disease topics for patients and caregivers. NORD collaborates with medical experts, patient organizations and videographers to develop the videos, which are made possible by individual donations, educational grants, and corporate sponsorships. NORD is solely responsible for the content.