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- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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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 million to 30 million Americans. … There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated 25 …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… physical and social environment. For this reason, complex diseases are also called multifactorial diseases. This stands in contrast to a “simple” genetic … in a single gene. Common examples of complex genetic diseases include heart disease, diabetes, and cancer. … A …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… Dr. Daniel Kastner’s group that studies autoinflammatory diseases resulting from defects in the innate immune system. … of A20), a disease that may be associated with inflammatory liver disease and is investigating medications … L. Stone, M.D. … Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section. … Dr. Stone is a staff …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… is ending diagnostic odysseys for patients with rare diseases. … Did you know that there are truly rare people … of these patient groups are accelerating research on rare diseases by recruiting patients with the same condition to … the mutations in the PRNP gene that cause prion diseases like FFI . Along with their colleagues, the couple …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases … The Genetic and Rare Diseases Information Center (GARD) was created in 2002 by …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) is part of the Undiagnosed Disease … Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) (now the National Center for Advancing Translational Sciences Division of Rare Diseases Research Innovation) and the NIH Clinical Center. … …
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 … Center for Biotechnology Information Genetics and Rare Diseases Information Center Finding Reliable Health …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… Neglected diseases are conditions that inflict severe health burdens on … or by others instrumental in drug access. … Neglected diseases are conditions that inflict severe health burdens on … poorest people. Many of these conditions are infectious diseases that are most prevalent in tropical climates, …
For Patients and Families
Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.
… medicine. … We have known for a long time that common diseases like heart disease, asthma, cancer, and diabetes can run in families. Rare diseases like hemophilia, cystic fibrosis, and sickle cell … you have an increased chance of getting some common diseases. Your health care provider can then give you …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… Disease Association International National Digestive Diseases Information Clearing House Genetic and Rare Diseases Information Center Gene Tests Genetic Alliance …