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News Release
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 …
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 … explores a range of diseases with the goal of: undertaking variant discovery for enough different examples of disease
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke, and have also … influences in the development of stroke and cardiovascular disease , and may also help lead to new treatment strategies. … in the prevention and treatment of stroke, cardiovascular disease and many other common diseases ," said stephen r. …
Event
The 2018 meeting focused on KOMP's collaborations with various human disease gene discovery programs.
… on komp's collaborations with various human disease gene discovery programs. the day featured talks and discussions … research program (kids first) and the undiagnosed disease network (udn). … rockville hilton hotel … md … 1750 …
The Genomics Landscape
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 …
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 … 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 …
News Release
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 …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… genomic causes for only about half. individually, a rare disease may affect only a handful of families. collectively, … the program's progress and the breadth of mendelian gene discovery to date. the authors also ruminated on the lessons … more separate conditions. "sometimes a gene mutation or a variant causes one disease , whereas a different mutation in …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… variants and genes underlying mendelian disorders. … the discovery of the genes and genetic variants that underlie … individual investigators and coordination with other rare disease programs worldwide. the cmg are co-funded by the … genome sequencing, dna sequencing, gene variants , genomic variant , mendelian disorders … the centers define the …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… the risk of stroke   in children with a rare genetic disease called dada2 (deficiency of adenosine deaminase type … , and a group in israel, independently discovered the gene variant that causes the disease using a genomic technique … around the world with fevers and unexplained strokes. the discovery that all of these children are deficient in the …