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15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… 80 percent of these rare disorders are genetic in origin, and 95 percent of them do not have even one treatment … disorder. It is difficult to overstate the relief that genomic testing has brought to many of these patients and … identification of at least 15 other children with the same disease, and the establishment of the NGLY1 Foundation  to …
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.
… Institutes of Health 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. … The … and CMG programs aim to discover the genes and genomic variants - spelling differences in DNA - that cause or …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… new toolset for finding potential disease-causing gene variants in undiagnosed patients. The work is automatically … by computers - with no human interpretation or bias - and takes about three hours per exome to analyze an … we developed significantly narrows down the number of genomic changes that could be responsible for an individual's …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… National Institutes of Health are establishing which genes and genomic variants play a role in human disease, enabling their use in …
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… helped define NHGRI's niche: developing general paradigms and approaches, and creating data resources and tools. The … GSP aims to use genome sequencing to identify genes and genomic variants underlying human inherited disease across its full …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
… this reorganization, the Center for Research on Genomics and Global Health (CRGGH) is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch (MCIDGB). … As described by NHGRI …
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 … and teachers who work with people with a genetic or rare disease. Even scientists who are studying a genetic or rare …
Clinical Research
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 … Sciences Division of Rare Diseases Research Innovation) and the NIH Clinical Center. … A longstanding medical … Undiagnosed Diseases Network to Target Rare Disorders with Genomic Medicine GenomeWeb 2013 November 9, 2013: Young …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… announced today that Baylor College of Medicine in Houston and the Medical College of Wisconsin in Milwaukee will be … for patients by analyzing DNA sequence, which can reveal variants in patients' genome that may be the cause of a disease. Genome sequencing is an increasingly fast and …
News Release
NIH will renew three awards totaling $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine.
… Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine. The National Human …