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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
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 provides insights into more common disorders.​ … … members - Anastasia L. Wise, Ph.D., Shawn Burgess, Ph.D., and Brian P. Brooks, M.D., Ph.D.- will provide research …