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News Release

Genes associated with Erdheim-Chester disease also linked to cancer

NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.

… identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies. Findings on this ultra-rare disease, found in approximately 600 people in the world, were published in Blood Advances . … "The discovery of new genes associated with ECD provides hope for …

News Release

Workshop: Charting genome sequencing's future

NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.

… and speakers echoed this theme throughout the workshop. Disease Variant Discovery The morning of day one focused on the state of the …

News Release

New grantees to conduct DNA sequencing for Undiagnosed Diseases Network

Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.

… variants in patients' genome that may be the cause of a disease. Genome sequencing is an increasingly fast and … especially how their function or malfunction may affect a disease condition. Investigation of gene function is a … will establish a pipeline for functional analysis, drug discovery, and pathway identification of UDP-identified genes …

The Genomics Landscape

First FDA-Recognized Public Genetic Variant Database: ClinGen

In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.

… the completion of the Human Genome Project in 2003 and the discovery of DNA's double-helical structure in 1953. Watch … Resource under their recent Public Human Genetic Variant Database guidance. This program is part of an FDA … establishing which genes and gene variants are relevant in disease. ClinGen was launched in September 2013 to build an …

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 … underlining this important relationship in advance of Rare Disease Day at NIH , a day-long symposium that is part of a … have been probing the connection between the rare Gaucher disease and the more common Parkinson's disease. While …

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 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 …

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.

… identification of at least 15 other children with the same disease, and the establishment of the NGLY1 Foundation to support research about the disease and pursue possible treatments. In 2015, Matt was one … However, Eric and Sonia's team made the surprising discovery that PRNP mutations are more common than we …

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 … 19, 2019: Undiagnosed disease program finds novel genetic variant UAB News 2018 September 24, 2018: The NIH Undiagnosed … PBS Second Opinion Feb. 28, 2010: Disease Detectives A Discovery Health, three-part promotion of the one-hour …

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 … or rare diseases and advocacy groups who want up-to-date disease information for their members have contacted GARD. …