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News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… National Human Genome Research Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also … are underlining this important relationship in advance of Rare Disease Day at NIH , a day-long symposium that is part …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… Genomics is ending diagnostic odysseys for patients with rare diseases. … Did you know that there are truly rare people born all the time? Around 350 million people on … importantly, many of these patient groups are accelerating research on rare diseases by recruiting patients with the …
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 States at any given time. There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated … There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases … The Genetic and Rare Diseases Information Center (GARD)  was created in 2002 … and teachers who work with people with a genetic or rare disease. Even scientists who are studying a genetic or rare …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… Researchers at the National Human Genome Research Institute (NHGRI) and their collaborators are … the puzzling link between a common disorder, Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice to … inherit two mutant copies of GBA1 have Gaucher disease, a rare lipid storage disorder characterized by enlargement of …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases. … will continue investigating the genomic underpinnings of rare, typically inherited diseases, such as cystic fibrosis …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… The Centers for Common Disease Genomics (CCDG) are a collaborative large-scale … genome sequencing effort to comprehensively identify rare risk and protective variants contributing to multiple common disease phenotypes. … complex inherited diseases. Understand how best to design rare variant studies for common disease. Develop resources, …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease. Researchers from the National Human Genome Research Institute (NHGRI) and the National Center for … Gaucher disease is an inherited condition caused by alterations in …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases. The new grants, pending … $2.5 million to study what specific genes do in rare, difficult-to-diagnose diseases. In this third round of …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… Researchers with the National Human Genome Research Institute (NHGRI), part of the National Institutes … used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … analysis for a possible  diagnosis of DiGeorge syndrome, a rare disease. Credit: Paul Kruszka, et al. The researchers …