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News Release

Research provides more insight into genetic basis of Behçet's Disease

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

Rare disease research may provide insights into common diseases

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

Rare Diseases FAQ

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

Complex Disease

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

Rare Genetic Diseases

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

Genetic and Rare Diseases Information Center

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

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 … expert consultations provided for free at one of the world's largest medical research institutes. The patient is …

Genetic Disorders

About Charcot-Marie-Tooth Disease

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 FAQ

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

Genetics, Disease Prevention and Treatment FAQ

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 …