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- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
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 …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… teams to study the biology of rare and undiagnosed diseases. The new grants, pending available funds, support … and a coordinating center. The UDN is supported by the NIH Common Fund and builds on the success of the Undiagnosed … or dysfunction affects a disease or condition. The NIH Common Fund and NINDS awarded six, two-year gene function …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… a defect within the axons themselves. CMT type 2, the less common of the two classes, can be further separated into at … 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 …
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 … the United States with high rates of poverty.  … The most common type of neglected diseases are tropical diseases. Many … greatly minimize the impact of infection if it does occur. Common examples are the anti-malarial drugs that many take to …
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 … learn whether you have an increased chance of getting some common diseases. Your health care provider can then give you …
The Informed Consent Resource
Explore the basic elements of informed consent that are required by the Common Rule and that are relevant to genomics.
… elements of informed consent that are required by the Common Rule (45 CFR 46, Subpart A) and that are relevant to … of the underlying genomic science, the study design, the diseases(s) or condition(s) being studied, and the immediate … families and communities).  Protections from risks: The Common Rule regulations, the Office of Human Research …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… and each has a wide range of symptoms. Type 1 is the most common, does not affect the nervous system and may appear … is a carrier. Type 2 and Type 3 Gaucher disease are not as common. … Symptoms of Gaucher disease vary greatly among … From the Mayo Clinic National Tay-Sachs and Allied Diseases Association [ntsad.org] Finding Reliable Health …
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 …
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.
… women of middle age. However, although it is 20 times more common in women, 16 percent of the reported cases are males …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… able to identify genetic variations that contribute to common diseases including Parkinson's disease. … In most cases …