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Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… Huntington's disease is an inherited neurological illness causing … Huntington's disease (HD) is an inherited neurological illness causing … led to a genetic test to make or confirm the diagnosis of Huntington's disease. Using a blood sample, the genetic test …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's Disease … Huntington's disease is an inherited disease characterized by the progressive loss of brain and … Huntington's Disease, Genetic Disease, Genes, Autosomal Dominant … Huntington’s disease is a rare inherited disorder associated with the …
Talking Glossary
La enfermedad de Huntington es un trastorno hereditario raro que se asocia con la pérdida progresiva de la función cerebral y muscular.
… Enfermedad de Huntington … La enfermedad de Huntington es un trastorno hereditario raro que se asocia con … La enfermedad de Huntington es un trastorno hereditario raro que se asocia con … síntomas emocionales y psiquiátricos. La enfermedad de Huntington es un rasgo hereditario autosómico dominante, lo …
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 fewer than 200,000 people in the United … a role in rare diseases. Such factors may directly cause disease, or interact with genetic factors to cause or increase the severity of disease. … digestive systems (See: Learning About Cystic Fibrosis ); Huntington's disease, which affects the brain and nervous …
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 … underlining this important relationship in advance of Rare Disease Day at NIH , a day-long symposium that is part of a … research updates at the February 27 event. In NHGRI's Medical Genetics Branch , for example, Ellen Sidransky, …
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 … Genes, Cancer, Heart Disease, Gene-environment Interactions … A complex disease (or condition), when discussed in the context of … diseases. This stands in contrast to a “simple” genetic disease that is more directly caused by mutations in a single …
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 … CMT is an inherited neurological disease characterized by a slowly progressive degeneration of … scoliosis (curvature of the spine). People with CMT disease usually begin to experience symptoms in adolescence …
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 … that more than 1 billion people — one-sixth of the world's population — suffer from one or more neglected diseases. …