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Illinois Assistive Technology Program Open House

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Illinois Assistive Technology Program Open House

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26 October 2026 9 am: Open House at the warehouse 701 N. Walnut Street, Springfield, IL. Please donate your unused walkers, commodes, wheelchairs and transport chairs.

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Kansas-based national organization providing online support groups for people with vasculitis and Goodpasture syndrome.

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National organization that provides support for patients and providers diagnosed with Alport Syndrome—a rare kidney disorder

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Rare Across America: 10 - 21 August 2026

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Rare Across America: 10 - 21 August 2026

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Register for Rare Across America to talk with your senators and representatives about your rare disease journey.

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UniQure to seek FDA approval for Huntington’s disease 

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UniQure to seek FDA approval for Huntington’s disease 

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New FDA director reverses course on rare disease drug approvals.

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UniQure to seek FDA approval for Huntington’s disease gene therapy after previous clash with agency

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The announcement comes months after UniQure became embroiled in a public debate with FDA leaders over the clinical trial data supporting its application.

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ALL CAPS: THE STATE OF THE SOCIAL SAFETY NET UNITED WAY METRO CHICAGO IN LOCAL COMMUNITIES

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Thursday 9 July 2026 at 9 am. Register for free.

Three leaders give insight on our Illinois safety net.

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Read the brief about informal care and caregiver needs.

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Illinois Department of Disability and Guardianship Created

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Illinois Department of Disability and Guardianship Created

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Illinois has a program to relieve medical debt that exceeds 5 % of your income. Apply.

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Sickle Cell Disease Association Red logo

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Join the Illinois Sickle Cell Association for a day of learning. Saturday 22 May 2026 in Chicago. Be part of a fantastic community to raise awareness and make cures possible!

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Study from 2022

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Donate your unopened prescriptions that do not expire within 5 months. Request prescriptions when you are unable to afford them.

Donations for shipping are appreciated.

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Resources to make sure you are staying covered.

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Facebook group for Illinois Rare Disease advocacy. See what is happening. Share your ideas and needs.

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Recorded by the Illinois Department of Public Health. Don‘t suffer in silence. Please share your issues so your government can fix them.

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Minnesota-based podcast for rare disease families with educational resources and events calendar on their website.

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National Alliance for Dup15q families

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Help research by joining the food allergy registry

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at the Capitol in Springfield, IL

24/25 March 2026

Join Us - Register (free): https://www.illinoisrare.com/newsevents

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7 - 8 March 2026 Virtual Conference for Education and Support for Patients on Ig Therapy and Biologics

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How Prior Authorization is delaying and preventing timely care for rare disease patients.

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Connects Human Phenotype Ontologies (HPOs) - to zero in on a correct diagnosis. Downloadable software.

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Rare Disease Case Study Finder:

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Symptom checker app, can shorten time to a diagnosis!

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Support and resources for people living with neurofibromatosis

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for families with medically complex and technology-dependent children

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Life-saving directives

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Individually, we are RARE

Together, we are MIGHTY

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This board meets on the second Wednesday of the month. They hear the concerns of people with rare diseases in Illinois:

Wed 1/14/2026

Wed 2/11/2026

Wed 3/11/2026

Wed 4/8/2026

Wed 5/13/2026

Wed 6/10/2026

Wed 7/8/2026

Wed 8/12/2026

Wed 9/9/2026

Wed 10/14/2026

Wed 11/11/2026

Wed 12/9/2026

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Assists with co-pays and access to care.

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Pompe Disease Alliance is holding a townhall to discuss budgeting impact on 25 October 2025 at 5 pm EST. Register: https://us02web.zoom.us/meeting/register/tgMcMC8aTLOV4ri0hz45LA

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Welcome! You are invited to join a meeting: Town Hall . After registering, you will receive a confirmation email about joining the meeting.

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Welcome! You are invited to join a meeting: Town Hall . After registering, you will receive a confirmation email about joining the meeting.

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CJD Foundation logo on purple background

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This year the CJD conference takes place in Chicago, IL. Register here: https://cjdfoundation.org/etn/2025-cjd-foundation-family-conference/

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https://time.com/7278169/baby-screenings-newborn-changing-trump-administration/

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Founded by Joe Feldman this website provides guidance how to get coverage for your care: https://covermymentalhealth.org/

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State Representative LaPointe holds a webinar on how to get mental healthcare covered.

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A Consumer’s Guide to Self-Advocacy with Commercial Health Insurance Plans 2025 Webinar

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Undiagnosed Diseases Network logo in blue green red

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A program of the National Institutes of Health. Apply for investigation and support: https://undiagnosed.hms.harvard.edu/participate/

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4 & 5 March 2025

Join patients, families, caregivers, and the entire rare disease community for this impactful event as we raise awareness and educate Illinois legislators about the challenges faced by our community.

March 4, 2025: Reception from 5-7 pm (Bloom Wine Bar & Florals, 2 S Old State Capitol Plaza, Springfield, IL 62701)

March 5, 2025: Rare Disease Day, Breakfast & Programming, 8 am - 2 pm (Illinois State Library Conference Room 403/404, 300 S. 2nd Street, Springfield, IL 62701)

Please make sure to register for EACH event you are able to attend. Reserve your free ticket:

https://ibio.app.neoncrm.com/nx/portal/neonevents/events?path=%2Fportal%2Fevents%2F12504

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actually, Night & Day

4 & 5 March 2025

Reserve your free ticket:

https://ibio.app.neoncrm.com/nx/portal/neonevents/events?path=%2Fportal%2Fevents%2F12504

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Illinois Mast Cell Activation Syndrome Community | Facebook

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Welcome to the Illinois Mast Cell Activation Syndrome Community. This group is open to people who have or suspect a diagnosis of MCAS and providers. The…

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Helping patients and caregivers. Sign up for clinical trials recruitment and referral programs.

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Rare Patient Voice connects patients and caregivers with the opportunity to voice their opinions through surveys and interviews to improve medical products and services.

Wes Michael, President and Founder of Rare Patient Voice, has been involved in rare and orphan diseases since 1998, interviewing and surveying patients, caregivers, physicians, nurses and advocacy leaders. Wes has more than 40 years experience in marketing research, and more than 20 years in healthcare marketing research.

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Rare Patient Voice helps patients and caregivers voice their opinions through surveys and interviews to improve medical products and services.

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Illinois Assistive Technology Program - blue logo

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Electric lifts, adjustable beds, and more:

https://iltech.org/

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https://www.ilrxdrugrepository.org/donation-sites

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1. Insurance billing issues should be referred to the Illinois Department of Insurance at 877-527-9431 or 866-445-5364. To file a complaint online go to https://mc.insurance.illinois.gov/messagecenter.nsf

2. Possible health care fraud should be referred to the Attorney General’s Health Care Fraud Unit at 877-305-5145 (TTY 800- 964-3013) or fax 312-793-0802. To file a complaint online go to http://illinoisattorneygeneral.gov/consumers/hcform.pdf

3. Licensed personnel issues should be addressed to the Illinois Department of Financial and Professional Regulation at 312-814-6910. To file a complaint online go to https://www.idfpr.com/Admin/Complaints.asp

4. Mental health issues occurring and DHS-operated facilities can be referred to the Illinois Department of Human Services at 1-800-368-1463 or (312) 815-3784.

5. Medicare Billing Problems can be referred to a Medicare Customer Services Representative at 800-633-4227 or to the Department of Insurance at 800-548-9034.

6. Quality of care issues can be referred to the Central Complaint Registry Hotline at 800-252 4343 or 800-547-0466 for TTY only. The file a complaint use the form at https://dph.illinois.gov/content/dam/soi/en/web/idph/forms/topics-services/health-care-regulation/complaints/healthcarefacilitycomplaintform20210625.pdf

7. Other healthcare issues can be addressed to the Illinois Attorney General at 1-877-305-5145. A complaint form is available at https://illinoisattorneygeneral.gov/Page-Attachments/hcform.pdf

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Healthcare Bureau of the Illinois Attorney General

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Healthcare Bureau of the Illinois Attorney General

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https://illinoisattorneygeneral.gov/File-A-Complaint/index

The Health Care Bureau Can Help You With:

Billing disputes

Denial of coverage

Denial of treatment as not medically necessary

Partial payments on claims

Unfair insurance practices

False or misleading health care advertising

Difficulty navigating the health insurance appeals process

The Health Care Bureau’s toll-free hotline, 1-877-305-5145 (TTY 1-800-964-3013)

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Occam's razor (also known as the 'law of parsimony') is a philosophical tool for 'shaving off' unlikely explanations. Essentially, when faced with competing explanations for the same phenomenon, the simplest is likely the correct one.

https://datasmart.ash.harvard.edu/news/article/when-you-hear-hooves-think-horse-not-zebra-1079

Data collected by the EveryLife Foundation show that Rare Diseases together, are more common than diabetes, heart disease, or stroke.

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Uplifting Athletes raise awareness and funds for rare diseases.
https://www.upliftingathletes.org/chapter/illinois

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Resource page for rare and genetic disorders
https://www.luriechildrens.org/en/blog/about-rare-diseases-and-genetic-disorders/

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NORD - CENTER OF EXCELLENCE - round orange logo

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Northwestern University, Lurie’s Childrens’ Hospital, Chicago (both):
Allison Goetsch Weisman, MS, CGC - (312) 227 - 6120
Website in development

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https://emails.uofi.uic.edu/newsletter/62/953815062.html

New regulations provide relief for families with medically fragile children depending on technical equipment.

Now nighttime care givers are compensated.

Update: Waiver delayed - not yet posted for comment period to be implemented by 1/1/2025

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Share your story about insurance pre-authorizations and denials: https://careovercost.org

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Please participate in this 6 minute pilot survey:

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My name is Maria Pollock. The purpose of this form is to test this survey for one of my graduate classes at Northeastern Illinois University. I am curious what you think of the survey questions and appreciate your feedback. This survey is for people with health issues and their families in Illinois. Please answer all questions. The survey is anonymous. The goal of the survey is to describe the care needs of people with rare diseases and identify gaps. The answers can help lawmakers improve the care for people with rare diseases in Illinois.

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Illinois Department of Financial and Professional Regulations

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Illinois Department of Financial and Professional Regulations

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Illinois Department of Financial and Professional Regulations

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If you feel you have received unprofessional care from a provider in Illinois please speak up: https://idfpr.illinois.gov/content/dam/soi/en/web/idfpr/admin/dpr/f1717proreg.pdf

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GARD - National Resources from the National Institute of Health

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GARD - National Resources from the National Institute of Health

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National Resource and Help Line for Genetic and Rare Diseases.

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Home - Genetic and Rare Diseases Information Center

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Discover how the Genetic and Rare Diseases Information Center Website and Contact Center can help patients and families who have a rare disease.

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HFS logo - octagonal flower - blue, orange, purple

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Illinois Department of Healthcare and Family Services

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Illinois Department of Healthcare and Family Services

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Apply for Medicaid and related services: https://hfs.illinois.gov/

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Primary Biliary Colangitis & Rare Liver Diseases

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Primary Biliary Colangitis & Rare Liver Diseases

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Resources, support groups, and research opportunities.

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American Liver Foundation provides current news and information on a variety of liver related topics helping patients, friends and families affected by liver disease. The American Liver Foundation and UPMC have launched a new, five-part animated video series to help liver transplant patients find a living donor.

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Find state-required CME programs:

https://primeinc.org/

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Illinois Prescription Drug Advisory Board

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Illinois Prescription Drug Advisory Board

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meets on 9 January 2025 at 8:30 am via WebEx. Click the picture for Call-in information.

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Illinois Rare Disease Commission Logo with rainbow zebra stripes

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Illinois Rare Disease Commission Public Meetings

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Illinois Rare Disease Commission Public Meetings

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Illinois RDC Calendar 2025

Meetings are generally on the third Wednesday of the month, unless there is a state holiday:

Wed 15 January 2025 from noon to 1 pm CST: Speakers/Posters/Asks for Rare Disease Day

TBA: Action Day: Distributing Flyers for Rare Disease Day in Springfield, IL

Wed 19 February 2025 from noon to 1 pm CST

Illinois Rare Disease Day:

Tue 4 March 2025 5 pm - 9 pm Opening Ceremony/Awards: State House Inn Conference Room

Wed 5 March 2025 8 am - 10 am Breakfast with Legislators, Stratton Building, Springfield, IL

9 am to 10:30 am, Commission Meeting - Stratton Building/online

Wed 16 April 2025 from noon to 1 pm CST: Focus Topics 2025/Statewide survey/Medicaid provider/patients

Wed 21 May 2025 from noon to 1 pm CST: Focus Topic 1

Wed 18 June 2025 from noon to 1 pm CST: Focus Topic 2

Wed 16 July 2025 from noon to 1 pm CST - tentatively in person in Chicago, IL,with ice-cream social

Wed 20 August 2025 from noon to 1 pm CST: Report on Illinois Medicaid Reform & PBMs

Wed 17 September 2025 from noon to 1 pm CST: Innovative Therapies & Research

Wed 15 October 2025 from noon to 1 pm CST: Newborn Screening/Genetic Counseling

Wed 19 November 2025 from noon to 1 pm CST: Annual Report 2025

Wed 18 December 2025 from noon to 1 pm CST: Year Recap/Planning for 2026

The Illinois RDC is charged with providing recommendations to the General Assembly regarding

(1) Prescription drugs and innovative therapies

(2) Legislation to improve care and treatment

(3) Expand and improve newborn screening

(4) Other concerns.

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Rare Disease Legislative Advocates - RDLA is your advocacy partner.

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by the EveryLife Foundation

Read about Federal and State initiatives and policy updates:

April 2023 Newsletter: https://everylifefoundation.salsalabs.org/april2023rdlanewsletter?wvpId=d77df660-c742-4a66-9f89-34873772abde

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Illinois Adds Metachromatic Leukodystrophy to Newborn Screening

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Illinois Adds Metachromatic Leukodystrophy to Newborn Screening

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In May 2023 the Illinois General Assembly added screening for metachromatic leukodystrophy (MLD) to the newborn screening: https://www.ilga.gov/legislation/103/SB/10300SB0067eng.htm

The assay will first be introduced in a pilot program, and is expected to be available statewide in two years.
https://mldnewbornscreening.org

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An Illinois based non-profit organization that supports families with wrongful child abuse allegations, provides resources and legal support.

https://www.famjustice.org/about

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Register for the webinar: https://conferences.ig-ns.org/P360-2023//Home?mc_cid=0e4646410a&mc_eid=f4cf8bf308

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ResearchMatch is a nonprofit program funded by the National Institutes of Health (NIH). It helps to connect people interested in research studies with researchers from top medical centers across the U.S.

https://www.researchmatch.org/

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through the Illinois Department of Human Services

Screening, Advocacy & Service Coordination
Residential Service
Day Care Service
Other Services

https://www.dhs.state.il.us/page.aspx?item=115717

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Illinois alliance of pharmaceutical and biomedical research companies
https://ibio.org/

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Illinois Department of Health and Human Services

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Illinois Department of Health and Human Services

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Assists qualified individuals with coordination of care, rehab and insurance coverage: https://www.dhs.state.il.us

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Genetic Alliance - Registry Bootcamp - a yellow road through a field of blooms.

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Offers training in creating registries and aligning research
https://geneticalliance.org/registries/bootcamp/registry-services

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Agency for Healthcare Research and Quality finds sore spots in quality of healthcare in Illinois compared to other states.

https://datatools.ahrq.gov/nhqdr?_gl=1*1j2ugky*_ga*MzY4NDg0NTEyLjE2ODcxODIzNDM.*_ga_1NPT56LE7J*MTY4NzUyNDA2Mi4yLjEuMTY4NzUyNDEzNC41NS4wLjA.

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Please sign the petition to expedite a treatment for galactosemia patients.

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#PaveTheWayFDA - Galactosemia Community Urges FDA to Incorporate Voice of the Patient in Review of Potential First Treatment for Patients with Life-Altering Rare Disease
We, the undersigned, urge the U.S. Food and Drug Administration (FDA) to incorporate the experiences and perspectives of people living with galactosemia, and their caregivers, in the agency's review of govorestat (AT-007), the potential first-ever treatment for this rare genetic disease that can be life-threatening for newborns and causes severe lifelong complications. Our message to the FDA is as follows:

We need a treatment for galactosemia. Galactosemia is a rare genetic disease for which there are currently no approved treatment options. Patients with galactosemia are unable to metabolize the simple sugar galactose, which is present at high levels in all forms of dairy, including breast milk, and is also present at lower levels in fruits, vegetables, legumes, along with many other foods. To help manage the condition, people with galactosemia must eat a galactose restricted diet. However, diet alone is not enough.

Dietary restrictions do not prevent the serious long-term complications of the disease because they cannot prevent the body's endogenous, or natural production, of galactose. In fact, the body naturally produces approximately 10 times more galactose than patients ingest on the galactose restricted diet.[1] When not metabolized properly, galactose is converted into toxins, one of which is galactitol. This can cause long-term developmental, cognitive, behavioral and physical dysfunction in people with galactosemia.

We need a treatment urgently. The clinical study of govorestat showed a decline in the placebo group in daily living skills, behavior, adaptive skills, and tremor, proving that damage and disease progression occurs steadily over time. By the time some patients reach adulthood, the damage has created a wide gap in cognition and daily living skills compared to their peers, and hinders adults from living independently. Parents of children in the galactosemia community have noted heartbreaking challenges, such as trouble advocating for themselves outside the home, lacking social interaction with their peers, struggling with basic school subjects like reading, writing, and math, and tremor that hinders them from basic daily living activities. They also express anxiety over the development of new symptoms such as more severe learning disabilities, loss of memory, tremor, and seizures.

Our desire is for people with galactosemia to live as independently as possible. Improvements across the activities of daily living, behavior, cognition and tremor would be significant to our community. These improvements could allow galactosemia patients to care for themselves independently, have the cognitive ability to learn skills alongside their peers, advocate for their own needs and wants, live absent of seizures, and have steady hands in order to participate in daily activities. It could mean the ability to build relationships, having age-appropriate emotional and behavioral regulation, and less time spent in a therapy setting. It could also relieve the financial burden our community bears from countless interventions that are not covered by insurance.

Galactosemia patients, and caregivers of children with the disease, deserve the opportunity to have access to this medicine. Govorestat (AT-007) has been shown to be a safe medicine with the potential to impact many disease complications of greatest concern to the galactosemia community. Clinical trial data has shown that the medicine is well-tolerated, and has very few adverse events and no serious adverse events, making the risk/benefit equation skewed heavily toward benefit. Clinical trial data has also shown a statistically significant reduction on the toxic metabolite galactitol, as well as statistically significant improvement on clinical and functional patient outcomes, including adaptive behavior, activities of daily living, and tremor over 18 months of treatment compared to placebo. Additionally, consistent improvement was shown on measurements of cognition and fine motor skills.

Based on the tremendous burden of disease and the compelling evidence that govorestat (AT-007) may offer galactosemia patients a better chance of an independent life, the galactosemia community urges the FDA to review and approve this medicine as quickly as possible. We know the FDA is dedicated to listening to patients and advancing safe and effective new medicines that will benefit patients, and we hope to partner with the FDA to advance this mission on behalf of the galactosemia community.

[1] A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia. Calcar, et al. 2 May 2014.

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PaveTheWayFDA - Galactosemia Community Urges FDA to Incorporate Voice of the Patient in Review of Potential First Treatment for Patients with Life-Altering Rare Disease We, the undersigned, urge the U.S.

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5K Run Fundraiser
https://give.themmrf.org/event/2023-mmrf-chicago-walk-run/e451814

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Rare Disease Research for Drug Development

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Approaches to research and drug development for rare diseases. Charles River Labs have multiple locations in Illinois and throughout the world.

https://www.criver.com/products-services/discovery-services/pharmacology-studies/rare-disease-studies?region=3696

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Illinois Attorney General - Disability Rights

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Complain about violations of your rights:

People with disabilities are entitled as a matter of law to fair and equal opportunities in all aspects of society. The Disability Rights Bureau enforces state and federal laws that protect the rights of people with disabilities in Illinois: https://ag.state.il.us/rights/disabilityrights.html

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Genetic and Rare Disease Information Center
by the National Institutes of Health (NIH)
https://rarediseases.info.nih.gov/

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California-based organization for Rare Diseases
https://globalgenes.org/

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Illinois Rare Disease Day 4 + 5 March 2025

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Illinois Rare Disease Day 4 + 5 March 2025

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Early warning: The Illinois Rare Disease Community advocates for their needs in Springfield, IL on Tuesday 4 March and Wednesday 5 March 2025.

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The Food and Drug Administration collects data on drug shortages. Find out if your medication is affected: https://www.fda.gov/drugs/drug-safety-and-availability

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Find studies about your condition and connect with research centers. Study results of completed studies may also be posted. Select “Interventional” studies if you are looking for treatement options.

https://clinicaltrials.gov/

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Rare bone and soft tissue cancer.

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Chondrosarcoma | Chondrosarcoma Support & Resources

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Visit the home page for Chondrosarcoma CS Foundation, Inc. here, dedicated to supporting patients with Chondrosarcoma, and improving treatment, care, and detection.

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I am a Chicago zebra - a person with rare diseases: Teddy is my custom-made corset that helps me fight pain. I live with a connective tissue disorder and altered drug metabolism.

[Trigger warning] Pain from surgeries left me with post-traumatic stress disorder: I lost my ability to read, and I couldn’t even finish watching a commercial.

Other people shared their healthcare struggles with me and I started advocating for people with complex, unique, rare and exceptional conditions (c.u.r.e. patients): We visited Illinois legislators to talk with them about the excess of denied prescriptions and care.

I have worked as a professional educator and piano technician. I have been a volunteer community organizer for over 20 years. My current involvement is as a patient support group leader and advocate. I also organize awareness campaigns.

Right now, I am in the middle of a masters degree at Northeastern Illinois University. I earned my teaching degree at the University of Ludwigsburg, Germany. I have also been trained in leadership by Weightwatchers International and the U.S. Pain Foundation.

telehealth - let‘s keep that option for everybody and across state borders

provider availability/provider networks - create mandates and incentives to provide care in Illinois

insurance coverage/insurance networks for rare disease patients - more oversight, public patient/provider compensation fund?

health equity for rare disease patients: does not exist and I care

education and outreach about rare disease in Illinois: Organize ice-cream socials in multiple locations this summer

passion: social justice, community, music

strengths: wit, grit and guts

struggles: finding qualified care, fighting the ‚label‘

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IL/MO U.S. Pain Foundation Support Group

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IL/MO U.S. Pain Foundation Support Group

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The U.S. Pain Foundation offers a free online support group for residents of Illinois and Missouri via Zoom. Preregister at this link: https://painconnection.org/illinois-support-group/

The group meets twice a month on the 1st and 3rd Thursday of each month from 5:30-6:30pm CST via Zoom at

https://us02web.zoom.us/j/86166543203?pwd=QksxMG41bHVqbGdJTWZCYmpEMnVuZz09

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The MarfanFoundation’s 39th Conference Chicago

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13 - 15 July 2025

https://marfan.org/2023/07/25/announcing-atlanta-conference-2025-virtual-global-conference-2024/

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Research center for mystery illnesses at Harvard School of Medicine: https://undiagnosed.hms.harvard.edu/

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Invisible Illness Story - told and reflected

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Invisible Illness Story - told and reflected

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A personal and literary view from within invisible auto-immune disease by Yale author Meghan O’Rourke. Link to purchase: https://a.co/d/f6Dgzuc

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Platelet Disorder Support Association has provider resources and a patient registry.

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Platelet Disorder Support Association - Empowering ITP Patients - Home

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Platelet Disorder Support Association - Empowering ITP Patients. Comprehensive information and support for those concerned about ITP, immune thrombocytopenia.

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US data indicate that fewer children have been mistreated.

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New Medicaid Work Requirement? - Take Action

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New Medicaid Work Requirement? - Take Action

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H.R.2811 - Limit, Save, Grow Act of 2023 passed the House. It allows states to disenroll any Medicaid recipient for a month when federal funding is not available, e.g. during a government shut down. How will disabled people who require around the clock assistance pay for care?

In addition, the act would require Medicaid recipients to provide at least 80 hours per month of “community engagement, work, or participation in a work program”.

To be exempt from this requirement a doctor’s letter is needed. This is difficult for people with rare diseases whose condition is often misunderstood, misdiagnosed or undiagnosed. How will people afford to get such a letter if they cannot afford healthcare in the first place?

On behalf of your neighbors who are too sick to work, please consider signing this letter to President Biden as soon as you are able:

https://rarediseases.org/driving-policy/take-action/#/191

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Scientists found a major clue why 4 of 5 autoimmune patients are women

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New research links X-chromosome suppressing protein to increased risk for autoimmune disorders:

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An X-ray scan shows bone and cartilage damage caused by rheumatoid arthritis, one of the autoimmune diseases more likely to affect women. (Bsip/Getty Images)
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An international team led by scientists at Stanford University has discovered a probable explanation for a decades-old biological mystery: why vastly more women than men suffer from autoimmune diseases such as lupus and rheumatoid arthritis.

Women account for about 80 percent of the people afflicted with autoimmune diseases, a collection of more than 100 ailments that burden a combined 50 million Americans, according to the nonprofit Autoimmune Association. In simple terms, these illnesses manipulate the body's immune system to attack healthy tissue.

In a paper published Thursday in the journal Cell, researchers present new evidence that a molecule called Xist - pronounced like the word "exist" and found only in women - is a major culprit in these diseases.

Better understanding of this molecule could lead to new tests that catch autoimmune diseases sooner and, in the longer term, to new and more effective treatments, researchers said.

Women typically have two X chromosomes, while men usually have an X and a Y. Chromosomes are tight bundles of genetic material that carry instructions for making proteins. Xist plays a crucial role by inactivating one of the X chromosomes in women, averting what would otherwise be a disastrous overproduction of proteins.

However, the research team found that, in the process, Xist also generates strange molecular complexes linked to many autoimmune diseases.

Although scientists conducted much of their work in mice, they made an intriguing discovery involving human patients: The Xist complexes ― long strands of RNA entangled with DNA and proteins ― trigger a chemical response in people that is a hallmark of autoimmune diseases.

Discovery of the role played by the Xist molecule does not explain how men get these diseases, or why a few autoimmune diseases, such as Type 1 diabetes, have a higher incidence among men.

"Clearly there's got to be more, because one-tenth of lupus patients are men," said David Karp, chief of the division of rheumatic diseases at the UT Southwestern Medical Center in Dallas. "So it's not the only answer, but it's a very interesting piece of the puzzle."

A tale of two X's

Autoimmune diseases have long proved difficult to address. Treatments are limited, and many of the diseases are chronic, requiring lifelong management. Most have no cure, leaving millions of Americans hoping that science will eventually offer better explanations for these ailments.

Stephanie Buxhoeveden was 25 when she began experiencing vision problems in her left eye and found herself unable to hold a syringe in her left hand - a critical tool for her nursing job. The reason: multiple sclerosis, an autoimmune condition in which the immune system attacks the protective covering of the brain, spinal cord and optic nerves.

"I was overwhelmed and scared because I knew there was no cure," the Virginia resident said. "All of these things that I had laid out, planned and worked really hard for all of a sudden were completely up in the air and no longer guaranteed."

Previous theories had suggested that the gender imbalance in these diseases might be caused by the main female hormones, estrogen and progesterone, or by the mere presence of a second X chromosome.

A tantalizing clue stemmed from men who have two X chromosomes and one Y chromosome, a rare condition called Klinefelter syndrome. These men run a much higher risk of suffering from autoimmune diseases, suggesting that the number of X chromosomes plays an important role.

Howard Y. Chang, senior author on the Cell paper and professor of dermatology and genetics at Stanford, said he began thinking about the ideas that led to the new discovery when he identified more than 100 proteins thateither bind directly to Xist or to other proteins that bind to Xist. Looking at those collaborator proteins, he noticed that many had been linked to autoimmune diseases.

Chang and his team engineered male mice that produced Xist to test whether males that made the molecule would also have higher rates of autoimmune diseases.

Since Xist by itself is not sufficient to cause an autoimmune disease, the scientists used an environmental trigger to induce a lupus-like disease in these mice. They observed that male mice then produced Xist at levels close to those of regular female mice, and well above those of regular male mice.

In humans, genetics and environmental factors, such as a viral or bacterial infection, can also help trigger autoimmune diseases.

The scientists obtained serums from human patients with dermatomyositis, a rare autoimmune disease that causes muscle weakness and skin rash. Serum is the part of the blood that contains antibodies that fight disease. They found that in these patients, Xist complexes produce what are called autoantibodies. Instead of defending the body from invaders, as an antibody would, the autoantibody targets features of the body.

Inactivation of the second X chromosome remains an important process "that you don't necessarily want to get rid of or tinker with too much," said Karp of UT Southwestern.

"But this work takes it in a totally different direction, and says that the mechanism that is needed to turn off the second X chromosome, that mechanism in itself might be responsible for generating autoimmunity," Karp said.

A better understanding of the mechanisms in these diseases would be significant if researchers can use it to develop new diagnostic tools, he added: "We are still using laboratory tests that were developed in the 1940s and '50s and '60s because they were easy to do, and they detected the most robust autoimmune responses."

A long road to new treatments

Jeffrey A. Sparks, an associate physician and director of immuno-oncology and autoimmunity at Brigham and Women's Hospital, said that it will be interesting to see how the treatment options available now might fit into this newfound mechanism.

"The sky's the limit here," said Sparks, who was not involved in the study, adding, "I think once you understand the fundamental mechanisms, you could think about developing therapies, early detection and preventions."

Major advances in treatment, though, may be years away, according to Keith B. Elkon, an adjunct professor of immunology and associate director at the Center for Innate Immunity and Immune Disease at the University of Washington.

Still, he said, scientific breakthroughs in the past 20 years have prolonged the lives of many people with autoimmune conditions.

"In 1950, if you've got a diagnosis of lupus, it would have been as bad as getting a diagnosis of cancer," Elkon said. "But over the last 15, 20 years there've been really striking breakthroughs in understanding disease. It's at the cusp of now being manageable."

Buxhoeveden, who is now 36 and a PhD candidate in nursing, is using immunosuppressants to manage her MS. She said she was encouraged by the fact that "we've made progress like this study to better understand what it is that triggers it."

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Scientists found a major clue why 4 of 5 autoimmune patients are women

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The discovery could lead to new tests that catch autoimmune diseases sooner and, in the longer term, to new and more effective treatments.

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Our mission is to empower patients with pheochromocytoma or paraganglioma, their families and medical professionals through advocacy, education and a global community of support, while helping to advance research that accelerates treatments and cures.

Founded in 2007, the Pheo Para Alliance is the longest-standing internationally recognized leader in advocacy for, and awareness of, pheochromocytoma and paraganglioma. Since our inception, the Pheo Para Alliance has dedicated more than $2 million towards research, diagnosis, education, advocacy, and finding a cure. Our program activities include the Center of Excellence Program, Education Webinar Series, national & regional conferences, one-on-one and monthly peer support, facilitating patient-centric research & more.

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(Donations & Official Correspondence)
3301 Richmond Hwy #1257
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info@pheopara.org

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Our mission is to empower patients with pheochromocytoma or paraganglioma, their families and medical professionals through advocacy, education and a global community of support, while helping to advance research that accelerates treatments and cures. Founded in 2007, the Pheo Para Alliance is the longest-standing internationally recognized leader in advocacy for, and awareness of, pheochromocytoma and paraganglioma.

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Division of Specialized Care for Children

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