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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… will guide researchers in studying other forms of these diseases, as well as other neurological disorders. Because … investigating inherited and non-inherited neurological diseases. Additional Resources for Charcot-Marie-Tooth … degeneration of the muscles and loss of sensation. … Genetic Disorders …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… Genetic Testing … Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease. … Genetic Variation, Genetic Testing, Genetic Counselor, …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… From the Mayo Clinic National Tay-Sachs and Allied Diseases Association [ntsad.org] Finding Reliable Health … called glucocerebroside cannot be adequately degraded. … Genetic Disorders …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… mice to carry human mutations causing each of the two diseases. They published their findings in the December 2017 … Issue 4, 198-208, December 2017. … A Puzzling Link Between Diseases … Related Content … Mouse model for rare genetic disease advances understanding of Parkinson's … NHGRI …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… corticosteroids, a disturbance of endocrine function, or a genetic cause since it seems to run in some families. Some … chiefly in post-menopausal, obese women of middle age. … Genetic Disorders …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… likely to develop the condition. Genetics: The Basics Our genetic material is stored in the center of every cell in our bodies (skin cells, hair cells, blood cells). This genetic material comes in individual units called genes. We … to identify genetic variations that contribute to common diseases including Parkinson's disease. … In most cases …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… skin problems; kidney stones, gallstones or other diseases of the liver and biliary system. Both men and women … Treating Children and Adolescents National Digestive Diseases Information Clearinghouse Inflammatory Bowel Disease … usually diagnosed in people between the ages of 20 - 30. … Genetic Disorders …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… States at any given time. There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated 25 … in a single gene. Such diseases are referred to as rare, genetic diseases. Many of these genetic mutations can be passed on from one generation to the …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… develops due to pathogen exposure, along with a mix of genetic and environmental risk factors, but their interaction … in DNA that correlate with autoimmune and inflammatory diseases. They found novel DNA changes that are correlated … Dr. Daniel Kastner, M.D., Ph.D. News Release : Genetic mystery of Behcet's disease unfolds along the ancient …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… lost by nerve degeneration in individuals with HD. Genetic studies: Scientists are continuing to study inheritance patterns in families, including genetic studies of onset age, inheritance patterns and … UC Irvine researchers believe they've discovered how the genetic mutation alters chemical pathways to cause the …