Search Results
Research at NHGRI
NHGRI center focused on computationally intensive approaches to analyze large-scale genomic data and identifying genetic contributions to human disease.
… The Center for Genomics and Data Science Research focuses on the development … focus on identifying genetic contributions to human disease. … Center investigators specialize in statistical … computer science to identify genetic variants responsible for increased susceptibility to disease and variation of …
News Release
eMERGE Network will support multiple clinical sites and a coordinating center with $75 million over five years.
… the provision of $75 million in funding over five years for the Electronic Medical Records and Genomics (eMERGE) … risk-assessment and management methods for a number of common diseases. Approximately half of the clinical sites … … About NHGRI and NIH … Related Content … NIH funds centers to improve the role of genomics in assessing and …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… Prabarna Ganguly, Ph.D. … Genomic variants that cause common periodic fever have spread in Mediterranean … populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the … FMF-causing genomic variants have been positively selected for in Mediterranean populations over centuries. The findings …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… The National Human Genome Research Institute funded the Centers for Mendelian Genomics (CMG) in 2011 with the charge to … approaches. This knowledge can also lend insight into the common or more complex phenotypes that involve similar genes, …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… is part of the Undiagnosed Disease Network (UDN), an NIH Common Fund initiative that focuses on the most puzzling … program's medical team. In general, it takes 8 to 12 weeks for the UDP to evaluate an application, and the waiting list … diseases. The team, drawn from various NIH institutes and centers, studies a patient's clinical and laboratory results …
The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
… Mooney, Ph.D. , will become the director of NIH’s Center for Information Technology (CIT). In this role, Sean will … ). …  As stewards of federal funds, the institutes and centers that make up NIH are expected to take a critical and … commonly used in research and they have many diseases in common, dogs have been generally underutilized in genomics …
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… The investigators in the Center for Precision Health Research (CPHR) develop and evaluate … to improve the diagnosis, treatment and prevention of disease to foster next-generation healthcare. … The Center … spectrum of disorders, with a range of heritability from common diseases associated with common genetic variants to …
The Genomics Landscape
In the January 2018 edition of The Genomics Landscape, NHGRI Director Eric Green features the NIH Intramural Sequencing Center.
…  and Nature . While Science's  Breakthrough of the Year for 2017  is the cosmic merger of two neutron stars, the … intramural researchers at NHGRI and other NIH institutes/centers. Under the current leadership of Director Jim … (ENCODE) Project . Later, NISC became involved in NIH Common Fund's Human Microbiome Project , in which genome …
Research Funding
Funded in 2016 to harmonize, access, and analyze the data produced by the sequencing centers.
… The Genome Sequencing Program Analysis Centers (GSPACs) were funded in 2016 to harmonize, access, … data and develop methods to discover variants underlying common, complex, and Mendelian diseases. … The currently … . The GSPACs work closely with NHLBI's Trans-omics for Precision Medicine Program  to harmonize joint variant …
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 … the surprising discovery that PRNP  mutations are more common than we previously thought, and these mutations don't … Network . This national network of medical and research centers aims to help both individual patients and to …