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General overview video - very good!

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Mutations: The Potential Power of a Small Change

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The Amoeba Sisters discuss gene and chromosome mutations and explore the significance of these changes. Music used with permission from Adrian Holovaty (http://www.youtube.com/adrianholovaty). This video has a handout here: http://www.amoebasisters.com/handouts.html Support us on Patreon! http://www.patreon.com/amoebasisters Our FREE resources: GIFs: http://www.amoebasisters.com/gifs.html Handouts: http://www.amoebasisters.com/handouts.html Comics: http://www.amoebasisters.com/parameciumparlorcomics Connect with us!

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How do cancer cells differ from healthy ones?

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How do cancer cells differ from healthy ones?

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How do cancer cells behave differently from healthy ones? - George Zaidan

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Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time.

In people with CF, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein to become dysfunctional. When the protein is not working correctly, it's unable to help move chloride -- a component of salt -- to the cell surface. Without the chloride to attract water to the cell surface, the mucus in various organs becomes thick and sticky.

In the lungs, the mucus clogs the airways and traps germs, like bacteria, leading to infections, inflammation, respiratory failure, and other complications. For this reason, minimizing contact with germs is a top concern for people with CF.

In the pancreas, the buildup of mucus prevents the release of digestive enzymes that help the body absorb food and key nutrients, resulting in malnutrition and poor growth. In the liver, the thick mucus can block the bile duct, causing liver disease. In men, CF can affect their ability to have children.

Symptoms of CF

People with CF can have a variety of symptoms, including:

Very salty-tasting skin

Persistent coughing, at times with phlegm

Frequent lung infections including pneumonia or bronchitis

Wheezing or shortness of breath

Poor growth or weight gain in spite of a good appetite

Frequent greasy, bulky stools or difficulty with bowel movements

Male infertility

Listen to CF clinicians explain:

Which body parts are affected by CF

Common CF symptoms

How CF is treated

Cystic fibrosis is a genetic disease. People with CF have inherited two copies of the defective CF gene -- one copy from each parent. Both parents must have at least one copy of the defective gene.

People with only one copy of the defective CF gene are called carriers, but they do not have the disease. Each time two CF carriers have a child, the chances are:

25 percent (1 in 4) the child will have CF

50 percent (1 in 2) the child will be a carrier but will not have CF

25 percent (1 in 4) the child will not be a carrier and will not have CF

The defective CF gene contains a slight abnormality called a mutation. There are more than 1,700 known mutations of the disease. Most genetic tests only screen for the most common CF mutations. Therefore, the test results may indicate a person who is a carrier of the CF gene is not a carrier.

Diagnosing cystic fibrosis is a multistep process, and should include a newborn screening, a sweat test, a genetic or carrier test, and a clinical evaluation at a CF Foundation-accredited care center. Although most people are diagnosed with CF by the age of 2, some are diagnosed as adults. A CF specialist can order a sweat test and recommend additional testing to confirm a CF diagnosis.

Read the CF Foundation's clinical care guidelines for diagnosing CF.

According to the Cystic Fibrosis Foundation Patient Registry, in the United States:

More than 30,000 people are living with cystic fibrosis (more than 70,000 worldwide).

Approximately 1,000 new cases of CF are diagnosed each year.

More than 75 percent of people with CF are diagnosed by age 2.

More than half of the CF population is age 18 or older.

Cystic fibrosis is a complex disease and the types and severity of symptoms can differ widely from person to person. Many different factors, such as age of diagnosis, can affect an individual's health and the course of the disease.

Watch a video that provides a glimpse into the everyday life of Kaitlyn Broadhurst, a 25-year-old living with cystic fibrosis.

Tremendous advancements in specialized CF care have added years and quality of life to the lives of people with cystic fibrosis. There have been dramatic improvements from the 1950s, when a child with CF rarely lived long enough to attend elementary school to today, with many living long enough to realize their dreams of attending college, pursuing careers, getting married, and having kids.

Although there has been significant progress in treating this disease, there is still no cure and too many lives are cut far too short.

The type and severity of CF symptoms can differ widely from person to person. Therefore, although treatment plans can contain many of the same elements, they are tailored to each individual's unique circumstances.

People with CF and their families have expertise in how the disease affects them and how the context of their daily lives affect the way they approach their care. By acknowledging the respective roles, people with CF, their families, and clinical care teams can work together to develop treatment plans that align personal life goals with health goals.

"My doctor and I decided to come up with a plan that would work for me. We were able to negotiate a deal so that I was doing more treatments than I had been, but I wasn't just sitting at home hooked up to machines." --- Betsy Sullivan, a teenager with CF, from the CF Community Blog

The CF Foundation accredits more than 130 care centers that are staffed by dedicated healthcare professionals who provide expert CF care and specialized disease management.

Each day, people with CF complete a combination of the following therapies:

Airway clearance to help loosen and get rid of the thick mucus that can build up in the lungs.

Inhaled medicines to open the airways or thin the mucus. These are liquid medicines that are made into a mist or aerosol and then inhaled through a nebulizer and includeantibiotics to fight lung infections and therapies to help keep the airways clear.

Pancreatic enzyme supplement capsules to improve the absorption of vital nutrients. These supplements are taken with every meal and most snacks. People with CF also usually take multivitamins.

An individualized fitness plan to help improve energy, lung function, and overall health

CFTR modulators to target the underlying defect in the CFTR protein. Because different mutations cause different defects in the protein, the medications that have been developed so far are effective only in people with specific mutations.

The CF Foundation supports research to discover and develop new CF treatments and maintains a pipeline of potential therapies that target the disease from every angle.

Today, the Foundation is focused on developing lifesaving new therapies for larger numbers of people with CF -- including those with rare and nonsense mutations -- and pursuing daring, new opportunities to one day develop a lifelong cure.

When a group of parents started the Cystic Fibrosis Foundation in 1955, there were no treatments for cystic fibrosis. These parents set their sights high -- to advance understanding of this little-known disease, to create new treatments and specialized care for their children, and to find a cure.

In the ensuing years, the fundraising and commitment of the CF community has enabled the Foundation to support fundamental research in the laboratory that has led to groundbreaking discoveries, including the identification of the gene and protein responsible for cystic fibrosis. By expanding our knowledge of the underlying biology of the disease and its effect on the body, researchers have paved the way for creating new treatments.

The Foundation's steadfast commitment to advancing CF research has helped enable more than a dozen new treatments for the disease. We have made incredible progress, including the approvals by the U.S. Food and Drug Administration (FDA) of ivacaftor (Kalydeco), lumacaftor/ivacaftor (Orkambi), tezacaftor/ivacaftor (Symdeko), elexacaftor/tezacaftor/ivacaftor (Trikafta™), Cayston, and tobramycin (TOBI).

Research by dedicated scientists and clinicians from a wide range of disciplines advances our understanding of cystic fibrosis every day, helping to shape clinical care practices for people living with the disease for years to come. These include studies conducted using patient data in the CF Foundation's Patient Registry, which are helping us identify trends and track the effectiveness of treatments.

From bench to bedside, the Foundation is supporting the best research here and abroad to improve the quality of life of people with CF today and accelerate innovative research and drug development to add tomorrows. Two major initiatives have launched recently that will help us in this mission.

In 2018, the Foundation announced that it was committing $100 million to the Infection Research Initiative, a comprehensive approach to improve outcomes associated with infections through enhanced detection, diagnosis, prevention, and treatment. The Foundation also is actively pursuing and funding a broad portfolio of new treatments for other complications of the disease, such as inflammation, excessive mucus, gastrointestinal problems, and cystic fibrosis-related diabetes.

The second major initiative concentrates on people with nonsense and rare mutations who will not benefit solely from CFTR modulators and need an effective treatment for the underlying cause of their disease. The Foundation has thus far committed over $72 million to the Nonsense and Rare Mutations Research and Therapeutics Initiative, a multifaceted effort that already has funded more than 60 projects over the past several years at both academic institutions and pharmaceutical companies.

By pursuing these bold strategies and others, the CF Foundation continues to build a robust pipeline of potential new therapies that fight the disease from every angle. Learn more about the CF Foundation's key research programs:

Research Overview: A broad look at how the Foundation supports basic science, clinical research, and real-world research to expand our knowledge of cystic fibrosis and translate discoveries and insights into vital new treatments and clinical care practices for people living with CF.

Research We Fund: See a snapshot of how the CF Foundation is funding cystic fibrosis research.

CF Foundation Therapeutics Laboratory: Based in Lexington, Mass., the CF Foundation Therapeutics Laboratory identifies and tests potential groundbreaking therapies for CF, readying them for further development.

Therapeutics Development Network: The Therapeutics Development Network is the largest CF clinical trials network in the world. It provides the resources and support for studies that are leading to important new therapies and better treatments.

New Developments in Clinical Research: Watch interviews with leading CF researchers to learn about the latest cutting-edge studies into issues such as infections, nontuberculous mycobacteria (NTM), and nutrition and gastrointestinal health.

Drug Development Pipeline: Discoveries from the laboratory are being turned into potential drugs that attack both the symptoms of CF and the cause -- a faulty gene that makes a defective protein.

Research Centers: These CF "think tanks" are located at top universities and medical schools across North America, where scientists from many disciplines are brought together to combine their expertise to find a cure for CF.

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Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time. In people with CF, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein to become dysfunctional.

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Cystic Fibrosis and the Mucociliary System

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Learn about sickle cell disease, also called sickle cell anemia, and its causes, who is at risk, early symptoms, ways to manage complications, NHLBI research, and how to participate in clinical trials.

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Human Genome project - list of genetic disorders

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Human Genome project - list of genetic disorders

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A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes (changes in the number or structure of entire chromosomes, the structures that carry genes).

As we unlock the secrets of the human genome (the complete set of human genes), we are learning that nearly all diseases have a genetic component. Some diseases are caused by mutations that are inherited from the parents and are present in an individual at birth, like sickle cell disease. Other diseases are caused by acquired mutations in a gene or group of genes that occur during a person's life. Such mutations are not inherited from a parent, but occur either randomly or due to some environmental exposure (such as cigarette smoke). These include many cancers, as well as some forms of neurofibromatosis.

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A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes (changes in the number or structure of entire chromosomes, the structures that carry genes).

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Huntington's disease (HD) is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. It deteriorates a person's physical and mental abilities during their prime working years and has no cure. HD is known as the quintessential family disease because every child of a parent with HD has a 50/50 chance of carrying the faulty gene. Today, there are approximately 30,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease.

Many describe the symptoms of HD as having ALS, Parkinson's and Alzheimer's - simultaneously.

Symptoms usually appear between the ages of 30 to 50, and worsen over a 10 to 25 year period. Ultimately, the weakened individual succumbs to pneumonia, heart failure or other complications. Everyone has the gene that causes HD, but only those that inherit the expansion of the gene will develop HD and perhaps pass it on to each of their children. Every person who inherits the expanded HD gene will eventually develop the disease. Over time, HD affects the individual's ability to reason, walk and speak.

Symptoms Include:

Personality changes, mood swings & depression

Forgetfulness & impaired judgment

Unsteady gait & involuntary movements (chorea)

Slurred speech, difficulty in swallowing & significant weight loss

Stages of HD

Although symptoms of HD vary from person to person, even within the same family, the progression of the disease can be roughly divided into three stages.

Early stage HD usually includes subtle changes in coordination, perhaps some involuntary movements (chorea), difficulty thinking through problems and often a depressed or irritable mood. Medications are often effective in treating depression or other emotional problems. The effects of the disease may make the person less able to work at their customary level and less functional in their regular activities at home.

In the middle stage, the movement disorder may become more of a problem. Medication for chorea may be considered to provide relief from involuntary movements. Occupational and physical therapists may be needed to help maintain control of voluntary movements and to deal with changes in thinking and reasoning abilities. Diminished speech and difficulty swallowing may require help from a speech language pathologist. Ordinary activities will become harder to do.

In the late stage, the person with HD is totally dependent on others for their care. Choking becomes a major concern. Chorea may be severe or it may cease. At this stage, the person with HD can no longer walk and will be unable to speak. However, he or she is generally still able to comprehend language and retains an awareness of family and friends. When a person with HD dies, it is typically from complications of the disease, such as choking or infection and not from the disease itself.

In all stages of HD, weight loss can be an important complication that can correspond with worsening symptoms and should be countered by adjusting the diet and maintaining appetite.

The Scope of HD

Approximately 30,000 Americans have HD, but the devastating effects of the disease touch many more. Within a family, multiple generations may have inherited the disease. Those at-risk may experience tremendous stress from the uncertainty and sense of responsibility. In the community, lack of knowledge about HD may keep friends and neighbors from offering social and emotional support to the family, fostering unnecessary isolation. The Huntington's Disease Society of America has a nationwide network that provides support and referrals for individuals with HD and their families.

HD affects both sexes and all races and ethnic groups around the world.

Who Is At Risk

Every child of a parent with HD has a 50/50 chance of inheriting the expanded gene that causes the disease. If the child has not inherited this expanded gene, he or she will never develop the disease and cannot pass it on to their children.

Genetic Testing & Family Planning

People at-risk for the disease face a difficult choice about genetic testing for HD, given the current absence of an effective treatment or cure. Many people see no benefit in knowing that they will someday develop the disease. Others want an end to uncertainty so that they can make informed choices about the future. The decision whether to test or not is intensely personal and there is no "right" answer.

The Huntington's Disease Society of America recommends that at risk individuals who are considering genetic testing do so at a genetic testing center that follows the HDSA guidelines. Testing procedures at these centers involves sessions with professionals who are knowledgeable about HD and the local services available. It may take several weeks to receive the results once the genetic test is complete.

Genetic testing for children is typically prohibited before the age of 18, as the child may not understand the full implications of testing and may be vulnerable to pressure from others. However, a child under the age of 18 may be tested to confirm a diagnosis of juvenile onset HD after a thorough neurological exam.

Prenatal Testing

For families wishing to have a child who does not have the gene that causes HD, there are a few options. Pre-genetic diagnostic (PGD) testing can be used with In Vitro Fertilization (IVF) to make sure that any fertilized egg implanted does not have the abnormal gene. This can be done without informing the at-risk patient whether or not they have the gene that causes HD. If a woman is already pregnant, she can receive testing for the fetus with a chorionic villus biopsy at 10-11 weeks or via amniocentesis at 14-18 weeks. CLICK HERE TO FIND TESTING CENTERS NEAR YOU.

JHD Overview

In approximately 10% of cases, HD affects children or adolescents. The symptoms of Juvenile HD (JHD) are somewhat different than adult onset HD and may include stiff or awkward walking, increased clumsiness or changes in speech. The ability to learn new information may decline and the child may lose skills they previous had. JHD typically progresses more rapidly than adult onset HD. CLICK HERE FOR MORE INFORMATION

An End To HD?

In 1993, researchers identified the gene that causes HD. Since then, research has moved quickly towards developing treatments and, ultimately, a cure. HDSA supports the goals of clinical and basic research at leading research facilities globally. Clinical and observational trials are an important way you can help to sustain the momentum of HD research and move potential new therapies through the approval process. Visit the Research section of the HDSA website for more information and to find a trial in your area. There are opportunities for all HD family members - gene positive, at-risk, gene negative, and caregivers - to participate.

Where to find help?

With HDSA, no one fights alone. HDSA has developed a nationwide network that includes Chapters, Affiliates, HDSA Centers of Excellence, Support Groups and Social Workers that are ready to assist you with resources in your area.

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Huntington's disease (HD) is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. It deteriorates a person's physical and mental abilities during their prime working years and has no cure. HD is known as the quintessential family disease because every child of a parent with HD has a 50/50 chance of carrying the faulty gene.

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Higher level information on Huntington disease

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Higher level information on Huntington disease

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Huntington disease - causes, symptoms, diagnosis, treatment & pathology

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What is Huntington disease? Huntington disease is a type of autosomal dominant disorder involving a triplet repeat of CAG, leading to an abnormal protein that results in neuronal cell death, and various movement and cognitive-related symptoms. Subscribe - https://goo.gl/w5aaaV. More videos - https://goo.gl/UhOKiM. Support us on Patreon - https://goo.gl/ZGHEk4.

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Review of inheritance of gender and recessive and dominant alleles

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Review of inheritance of gender and recessive and dominant alleles

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A monohybrid cross is the study of the inheritance of one characteristic. In the genetic diagrams for these crosses:

Cystic fibrosis

Cystic fibrosis is an inherited disorder that mainly affects the lungs and pancreas. It is caused by a recessive allele . In a genetic diagram:

the recessive allele can be shown as f

the dominant allele can be shown as F

Someone who is homozygous (ff) for the recessive allele will develop cystic fibrosis . Someone who is heterozygous (Ff) or homozygous for the dominant allele (FF) will not develop cystic fibrosis.

In example 1, both parents are heterozygous, Ff. The chance of them producing a child with cystic fibrosis is 1 in 4, or 25%. The parents are of the disorder, as it is possible for them to produce a child with cystic fibrosis, without having it themselves.

In example 2, only one parent (the father) has a copy of the recessive allele. There is no chance of them producing a child with cystic fibrosis. However, half the possible offspring will be homozygous, FF, and half will be heterozygous, Ff. The ratio of FF to Ff is 1:1 or 50%.

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Genetic diagrams and pedigree analysis - Revision 3 - GCSE Biology (Single Science) - BBC Bitesize

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A monohybrid cross is the study of the inheritance of one characteristic. In the genetic diagrams for these crosses: Cystic fibrosis is an inherited disorder that mainly affects the lungs and pancreas. It is caused by a recessive allele .

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Is epilepsy genetic?

Advances in science and medicine over the last decade have led to a better understanding of the ways genetic factors contribute to epilepsy.

Some types of epilepsy run in families, passed down from one generation to the next. These epilepsies are both inherited and genetic.

Other types of epilepsy may be due to genetic changes that were inherited or happened for the first time in an individual. In such instances, there may not have been any family history of epilepsy. Thus, not all epilepsies that are due to genetic causes are inherited.

Some forms of epilepsy are due to acquired (happen for another reason) causes, like in the case of a head injury, and are neither genetic nor inherited.

Not all epilepsies that are due to genetic causes are inherited.

The genetics of epilepsy is a new and emerging field. For some individuals, it is not yet possible to determine whether their seizures are due to genetic factors.

What are the chances of inheriting epilepsy?

In general, if a person has a first-degree relative (mother, father, sibling) with epilepsy, the risk of developing epilepsy by the age of 40 is less than 1 in 20 ( Peljto et al. 2014). The risk differs somewhat between focal and generalized epilepsy. There is an increased risk of developing epilepsy if the first-degree relative has a generalized epilepsy rather than focal epilepsy ( Peljto et al. 2014; Helbig et al. 2016). These estimates come from population-based studies, meaning they are based on the average across a large group and may not apply for all individuals.

The likelihood of inheriting epilepsy may differ significantly if a person has a relative with a known genetic epilepsy diagnosis. In this case, the chance of developing epilepsy depends on the specific gene and inheritance pattern involved.

Basic Genetic Terms

To fully appreciate this, we first need to review a few basic genetic terms.

Gene

Genes are sequences of DNA (deoxyribonucleic acid) that determine different proteins made in the body. These proteins have a variety of functions and ultimately determine how we develop, grow and function. There are about 20,000 genes in the human genome. With a few exceptions, humans have two copies of every gene: one inherited from each parent.

Genetic Variant

A genetic variant is a change in the DNA sequence, which can cause the gene not to work properly and ultimately can affect how the gene (protein) functions.

De novo Variant

A de novo genetic variant arises for the first time in one individual. Usually, this is caused by a random change in the DNA of the egg or the sperm cell of the parent but is not otherwise present in either parent.

Incomplete Penetrance

For some genetic conditions, not everyone with a disease-causing variant will develop the symptoms of the disease. This phenomenon is called incomplete penetrance.

Autosomal Recessive Inheritance

Recessive inheritance means that to develop the condition, both copies of the gene (one gene from each parent) have a disease-causing variant.

If a person has an autosomal recessive genetic condition causing epilepsy, it means that both copies of the gene have a disease-causing variant.

In these cases, the mother and father are typically carriers of the condition, meaning that only one of their genes has a disease-causing variant.

Usually carriers do not have any symptoms of the disease. In this scenario, the mother and father would have a 1 in 4 chance with each pregnancy of having another child with this condition.

A person with an autosomal recessive disease can have a child with the same diagnosis, but only if their partner is also a carrier of the same recessive disease.

Autosomal Dominant Inheritance

Dominant inheritance means that to develop the condition, only one copy of the gene has a disease-causing variant.

If a person has a mother or father with an autosomal dominant genetic condition, the person has a 50% chance of inheriting the gene.

The chance of developing epilepsy will depend on the specific gene involved due to incomplete penetrance (not everybody with the variant will have symptoms).

For genes that have incomplete penetrance, the risk of inheriting the disease causing variant will still be 50%, but the likelihood of actually developing the symptoms may be lower.

X-linked Inheritance

X-linked inheritance occurs when the DNA change is present in a gene on the X chromosome.

X-linked inheritance can be either recessive or dominant.

Often with X-linked inheritance, a female with the genetic variant may be unaffected or mildly affected whereas a male would be much more significantly impacted. However, this is not always the case and depends on the specific gene.

There are some genetic epilepsies, for example, in which males are unaffected carriers, whereas females are typically significantly impacted.

Are certain types of epilepsy associated with genetic changes?

Certain types of epilepsy are associated with specific genetic changes, including changes in an individual gene or changes in a chromosome.

In some cases, the specific genetic change and type of epilepsy are well described in the medical literature.

For instance, individuals with a clinical diagnosis of Dravet syndrome are likely to have a variant in a gene called SCN1A. Usually, the variant in SCN1A is a de novo variant. This means the variant arose in either the egg or the sperm cell and the parents do not have the SCN1A variant.

However, it is important to note that the field of epilepsy genetics is in the early stages. In many cases, researchers are just beginning to learn about specific genes and the types of epilepsy associated with them.

In many instances, it may be hard to predict an individual's epilepsy prognosis because more research is needed.

Are there epilepsy-related genes?

The first few epilepsy-related genes were identified in the late 1990s. Advances in DNA sequencing now have identified hundreds of genes that play a role in epilepsy.

New genes are being identified on a regular basis.

Some of the genes identified to date seem to be specific to epilepsy.

Other genes are associated with epilepsy and other issues, such as

Developmental delay

Autism spectrum disorder

Intellectual disability

There are many different types of genetic tests that may be used to detect epilepsies with a genetic cause.

Individuals with epilepsy should speak with their healthcare providers about genetic testing options.

What types of research are being done to understand the role of genetics in epilepsy?

Research is currently ongoing in many medical centers and laboratories around the world to help understand the role of genetics in the development of epilepsy. One long term goal of this research is precision medicine. This means individuals with genetic epilepsies would be treated with approaches specifically targeted to their genetic diagnosis.

Although there are many types of research studies, three main types relate to the field of epilepsy genetics:

Natural History Studies

Clinical Trials

Functional Studies

Natural History Studies

This is observational research that collects specific information about individuals to understand the various features and progression of a specific condition.

There are currently many ongoing natural history studies for specific genetic epilepsy syndromes.

These types of studies are important to help families and clinicians better understand the prognosis for all the different genetic epilepsies.

The data generated from studies can be extremely useful for future clinical trials to help identify whether a therapy is effective.

Participating in a natural history study usually involves

Clinical Trials

These research studies are aimed at evaluating the safety and benefit (efficacy) of a specific intervention (such as, a medication, surgery, or device).

Typically, the intervention has been extensively tested in animal and cell models before a clinical trial takes place in humans.

Clinical trials require approval from the U.S. Food and Drug Administration (FDA) before they can begin.

They usually have four stages, each with a specific goal related to safety and benefit (efficacy).

The gold standard in medical research is called a randomized controlled trial.

When participating in a clinical trial, it is important to discuss the risks and benefits of participating with your physician and the researchers.

Usually, there are criteria to participate in a clinical trial (study).

You can only enroll if you meet all of the inclusion (characteristics someone must have to participate) and none of the exclusion (characteristics that make a person unable to participate) criteria.

One example of a criteria that might be used in a clinical trial could relate to a person's age. If the inclusion criteria said, "A person must be over age 18 to participate," then anyone under 18 would be excluded from the study.

The research team will review the informed consent document in detail and discuss the specific risks and potential benefits involved with the clinical trial.

Sometimes there may not be a direct benefit to a subject participating in a clinical trial. However, the research study may add to the scientific body of knowledge about the disease. This is especially important for rare diseases, such as the genetic epilepsies.

Learn More
Functional Studies

Sometimes a variant is seen in a gene, but it is difficult to know whether the variant causes a disease or not.

Functional (how something works) studies are very important in the field of genetics. They help to determine if a variant in a gene influences the function of the resulting protein.

The laboratory uses a variety of techniques on biological samples to assess the effect of the genetic variant.

Sometimes, the researchers need a sample (such as a blood, urine, or skin biopsy) directly from an individual with the specific genetic variant to complete the test. In these cases, the researcher may need to get informed consent from the person.

What clinical trials are available to families with a genetic diagnosis in epilepsy?

There are currently a limited number of clinical trials available to individuals and families with some forms of genetic epilepsies, but we anticipate the number of trials will continue to increase. The following links are a good place to start for information about currently available trials for genetic epilepsies:

References

Helbig I, Heinzen EL, Mefford HC, and Ilae Genetics Commission. Primer Part 1-The building blocks of epilepsy genetics. Epilepsia, 57 (2016): 861-8.

Peljto AL, Barker-Cummings, Vasoli VM, Leibson CL, Hauser WA, Buchhalter JR, and Ottman R. Familial risk of epilepsy: a population-based study. Brain, 137 (2014): 795-805.

Illustrations

National Library of Medicine (US). Adapted from Genetics Home Reference [Internet]: ghr.nlm.nih.gov. Bethesda (MD): The Library; 2013 Sep 16.

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Advances in science and medicine over the last decade have led to a better understanding of the ways genetic factors contribute to epilepsy. Some types of epilepsy run in families, passed down from one generation to the next. These epilepsies are both inherited and genetic.

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Genes are in the DNA of each cell in your body. They control how the cell functions, including:

Researchers estimate that each cell contains 30,000 different genes. Within each cell, genes are located on chromosomes.

About chromosomes

Chromosomes are the thread-like structures in cells that contain genes. There are 46 chromosomes, arranged in 2 sets of 23.

You inherit one set from your mother and one from your father. One chromosome in each set determines whether you are female or male. The other 22 chromosome pairs determine other physical characteristics. These chromosome pairs are called autosomes.

How genes work

Genes control how your cells work by making proteins. The proteins have specific functions and act as messengers for the cell.

Each gene must have the correct instructions for making its protein. This allows the protein to perform the correct function for the cell.

All cancers begin when one or more genes in a cell mutate. A mutation is a change. It creates an abnormal protein. Or it may prevent a protein's formation.

An abnormal protein provides different information than a normal protein. This can cause cells to multiply uncontrollably and become cancerous.

About genetic mutations

There are 2 basic types of genetic mutations:

Acquired mutations. These are the most common cause of cancer. They occur from damage to genes in a particular cell during a person's life. For example, this could be a breast cell or a colon cell, which then goes on to divide many times and form a tumor. A tumor is an abnormal mass. Cancer that occurs because of acquired mutations is called sporadic cancer. Acquired mutations are not found in every cell in the body and they are not passed from parent to child.

Factors that cause these mutations include:

Germline mutations. These are less common. A germline mutation occurs in a sperm cell or egg cell. It passes directly from a parent to a child at the time of conception. As the embryo grows into a baby, the mutation from the initial sperm or egg cell is copied into every cell within the body. Because the mutation affects reproductive cells, it can pass from generation to generation.

Cancer caused by germline mutations is called inherited cancer. It accounts for about 5% to 20% of all cancers.

Mutations and cancer

Mutations happen often. A mutation may be beneficial, harmful, or neutral. This depends where in the gene the change occurs. Typically, the body corrects most mutations.

A single mutation will likely not cause cancer. Usually, cancer occurs from multiple mutations over a lifetime. That is why cancer occurs more often in older people. They have had more opportunities for mutations to build up.

Types of genes linked to cancer

Many of the genes that contribute to cancer development fall into broad categories:

Tumor suppressor genes. These are protective genes. Normally, they limit cell growth by:

When a tumor suppressor gene mutates, cells grow uncontrollably. And they may eventually form a tumor.

Examples of tumor suppressor genes include BRCA1, BRCA2, and p53 or TP53.

Germline mutations in BRCA1 or BRCA2 genes increase a woman's risk of developing hereditary breast or ovarian cancers and a man's risk of developing hereditary prostate or breast cancers. They also increase the risk of pancreatic cancer and melanoma in women and men.

The most commonly mutated gene in people with cancer is p53 or TP53. More than 50% of cancers involve a missing or damaged p53 gene. Most p53 gene mutations are acquired. Germline p53 mutations are rare, but patients who carry them are at a higher risk of developing many different types of cancer.

Oncogenes. These turn a healthy cell into a cancerous cell. Mutations in these genes are not known to be inherited.

Two common oncogenes are:

HER2, a specialized protein that controls cancer growth and spread. It is found in some cancer cells. For example, breast and ovarian cancer cells.

The RAS family of genes, which makes proteins involved in cell communication pathways, cell growth, and cell death.

DNA repair genes. These fix mistakes made when DNA is copied. Many of them function as tumor suppressor genes. BRCA1, BRCA2, and p53 are all DNA repair genes.

If a person has an error in a DNA repair gene, mistakes remain uncorrected. Then, the mistakes become mutations. These mutations may eventually lead to cancer, particularly mutations in tumor suppressor genes or oncogenes.

Mutations in DNA repair genes may be inherited or acquired. Lynch syndrome is an example of the inherited kind. BRCA1, BRCA2, and p53 mutations and their associated syndromes are also inherited.

Challenges in understanding cancer genetics

Researchers have learned a lot about how cancer genes work. But many cancers are not linked with a specific gene. Cancer likely involves multiple gene mutations. Moreover, some evidence suggests that genes interact with their environment. This further complicates our understanding of the role genes play in cancer.

Researchers continue to study how genetic changes affect cancer development. This knowledge has led to improvements in cancer care, including early detection, risk reduction, the use of targeted therapy, and survival.

Further studying cancer genetics may help doctors find better ways to:

Related Resources
Genetic Testing for Cancer Risk Understanding Cancer Risk Hereditary Cancer-Related Syndromes What Is Personalized Cancer Medicine? How Genomic Testing Brought Me a Sense of Control During Metastatic Breast Cancer
More Information
National Cancer Institute (NCI): The Genetics of Cancer NCI: How Genetic Changes Lead to Cancer (infographic)

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Genes are in the DNA of each cell in your body. They control how the cell functions, including:How quickly it growsHow often it dividesHow long it livesResearchers estimate that each cell contains 30,000 different genes. Within each cell, genes are located on chromosomes. About chromosomesChromosomes are the thread-like structures in cells that contain genes.

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CRISPR is a fairly new and highly precise gene editing tool that is changing cancer research and treatment. Researchers are using CRISPR to study how cancer grows and to find new potential treatments. CRISPR-based therapies are also being tested in trials of people with cancer.

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In every cell in the human body there is a nucleus, where genetic material is stored in genes. Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes. Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21.

This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome. A few of the common physical traits of Down syndrome are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm - although each person with Down syndrome is a unique individual and may possess these characteristics to different degrees, or not at all.

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How common is Down syndrome?

According to the Centers for Disease Control and Prevention, approximately one in every 772 babies in the United States is born with Down syndrome, making Down syndrome the most common chromosomal condition. About 5,100 babies with Down syndrome are born in the United States each year. (De Graaf et al., 2022).

When was Down syndrome discovered?

Are there different types of Down syndrome?

What is the likelihood of having a child with Down syndrome?

Down syndrome occurs in people of all races and economic levels, though older women have an increased chance of having a child with Down syndrome. A 35-year-old woman has about a one in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in 100 by age 40. At age 45 the incidence becomes approximately 1 in 30. The age of the mother, or birthing parent, does not seem to be linked to the risk of translocation.

Since many couples are postponing parenting until later in life, the incidence of Down syndrome conceptions is expected to increase. Therefore, genetic counseling for parents is becoming increasingly important. Still, many physicians are not fully informed about advising their patients about the incidences of Down syndrome, advancements in diagnosis, and the protocols for care and treatment of babies born with Down syndrome.

What impact does Down syndrome have on society?

Individuals with Down syndrome are becoming increasingly integrated into society and community organizations, such as schools, health care systems, work forces, and social and recreational activities. Individuals with Down syndrome possess varying degrees of cognitive delays, from very mild to severe. Most people with Down syndrome have cognitive delays that are mild to moderate.

Due to advances in medical technology, individuals with Down syndrome are living longer than ever before. In 1910, children with Down syndrome were expected to survive to age nine. With the discovery of antibiotics, the average survival age increased to 19 or 20. Now, with recent advancements in clinical treatment, most particularly corrective heart surgeries, as many as 80% of adults with Down syndrome reach age 60, and many live even longer (Down syndrome, 2018). More and more Americans are interacting with individuals with Down syndrome, increasing the need for widespread public education and acceptance.

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In every cell in the human body there is a nucleus, where genetic material is stored in genes. Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes. Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent.

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