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News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… Jeannine Mjoseth … Behçet's disease is a disease that destroys blood vessels through … loci implicates host responses to microbial exposure in Behçet's disease susceptibility - appears in the February 6, …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also … research updates at the February 27 event. In NHGRI's Medical Genetics Branch , for example, Ellen Sidransky, … the rare Gaucher disease and the more common Parkinson's disease. While patients with Gaucher disease are at …
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.
… A rare disease is generally considered to be a disease that affects … systems (See: Learning About Cystic Fibrosis ); Huntington's disease, which affects the brain and nervous system (See: Learning About Huntington's Disease ); and muscular dystrophies, which affect the …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Complex Disease … A complex disease is caused by the interaction of multiple genes and environmental factors. … Genes, Cancer, Heart Disease, Gene-environment Interactions … A complex disease …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… trying to find the root cause for their family member's rare disorder. It is difficult to overstate the relief that … a mutation in each copy of a gene called NGLY1 . Bertrand's mutations meant that he had no functioning copy of this … identification of at least 15 other children with the same disease, and the establishment of the NGLY1 Foundation  to …
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 … or rare diseases and advocacy groups who want up-to-date disease information for their members have contacted GARD. …
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. …
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 … conditions that inflict severe health burdens on the world's poorest people. Many of these conditions are infectious … trypanosomiasis. Commonly called sleeping sickness, this disease is caused by a parasitic microbe transmitted by …
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 … people use family history to improve their health, the U.S. Surgeon General started a national public health campaign called the U.S. Surgeon General's Family History Initiative . This goal of …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… Genetics Branch. Throughout his career at the NIH Dan’s research has focused on using genetic and genomic … widely accepted overarching concept of autoinflammatory disease to denote disorders of the evolutionarily ancient … complex autoinflammatory diseases have focused on Behçet’s disease and the syndrome of periodic fever with …