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Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… 1β (IL-1β), cause a devastating disorder known as NOMID (neonatal-onset multisystem inflammatory disease), and that the gene mutated …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… and teachers who work with people with a genetic or rare disease. Even scientists who are studying a genetic or rare disease and who need information for their research have … Contact Us On the GARD website. Fax: (301) 251-4911 By U.S. Mail: The Genetic and Rare Diseases Information Center …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… Diseases Program (UDP) is part of the Undiagnosed Disease Network (UDN), an NIH Common Fund initiative that … study following careful application review by the program's medical team. In general, it takes 8 to 12 weeks for the … new insights about genetic and biochemical mechanisms of disease and insights into normal cell biology, biochemistry …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… Charcot-Marie-Tooth disease (CMT) is an inherited neurological disease characterized by a slowly progressive degeneration of … two defective forms of the gene implicated in Lou Gehrig's disease are known to interact with a GARS family member. …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… the risk of stroke  in children with a rare genetic disease called DADA2 (deficiency of adenosine deaminase type … results when a malfunctioning gene hampers a person's ability to produce the enzyme ADA2 (adenosine deaminase 2). … resulting in strokes. The treatment works by blocking the inflammatory effects of a protein - tumor necrosis factor …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… conditions that inflict severe health burdens on the world's poorest people and are often overlooked by drug developers … trypanosomiasis. Commonly called sleeping sickness, this disease is caused by a parasitic microbe transmitted by … Africa. American trypanosomiasis. Commonly called Chagas disease, this disease is caused by a parasitic microbe …
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.​ ​
… is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine. … We have known for a … people use family history to improve their health, the U.S. Surgeon General started a national public health campaign …
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.
… Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper. Over time, … of protein, amino acids and uric acid in the urine Early onset of arthritis and bone loss … Doctors diagnose Wilson …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… Gaucher disease is an autosomal recessive inherited disorder of … glucocerebroside cannot be adequately degraded. … Gaucher disease is an autosomal recessive inherited disorder of … However it is often not possible to predict the patient's clinical course based upon DNA testing. … Enzyme …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the … called pyrin. In healthy people, pyrin plays a role in the inflammatory response of the body. Pyrin is activated when … senior author of the paper and a staff scientist in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics …