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- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… is principal investigator at Baylor College of Medicine's UDN DNA Sequencing Core. The Baylor College of Medicine … principal investigator at the Medical College of Wisconsin's UDN DNA Sequencing Core. The facility will provide … variants in patients' genome that may be the cause of a disease. Genome sequencing is an increasingly fast and …
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.
… therapies for a rare, genetic condition called Gaucher disease. Researchers from the National Human Genome Research … risk factor for developing the more common disorder Parkinson's disease. NHGRI also coordinated a large international study …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… said James M. Anderson, M.D., Ph.D., director of NIH's Division of Program Coordination, Planning, and Strategic … provide patients and their families access to the nation's leading diagnostic teams and sophisticated diagnostic … York City Harvard Teaching Hospitals (Brigham and Women's Hospital, Boston Children's Hospital, Massachusetts General …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which … structure and function of gene products leading to human disease. … A major focus of the branch's research lies in understanding how disruptions in signaling …
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.
… part of NIH, today launched the Centers for Common Disease Genomics (CCDG), which will use genome sequencing to … represents an important step in the evolution of NHGRI's long-standing, flagship Genome Sequencing Program (GSP). In its earliest phase, the GSP represented NIH's major contribution to the Human Genome Project. As DNA …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… exposures, omics, and childhood NAFLD (LEON) Study Disease Study Site** Stephanie Christenson*, Neeta Thakur, … of California, San Francisco EXposomic Profiling in Airway disease to uNravel Determinants of disease in Asthma (EXPAND-Asthma) Center Disease Study Site** …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
… newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch (MCIDGB). … As described by NHGRI … Scientific Synergies … Related Content … CRGGH joins NHGRI's Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch … CRGGH is now part of the …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… several novel and undiagnosed causes of autoinflammatory disease. For more information, see Protocol 94-HG-0105 or … review medical records to determine if the participant’s medical history is consistent with an autoinflammatory … One Gene at a Time … Lab Team Brynja Matthiasardottir, M.S. Christina Kozycki, M.D., M.PH. Elaine Remmers, Ph.D. …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch (MCIDGB) studies the genomic and … geography (e.g., diabetes, hypertension, heart and kidney disease, scleroderma and podoconiosis). MCIDGB researchers … individual- and population-level approaches. The center's scientists develop genetic epidemiology models that explore …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). The gene therapy involved inserting … NPC1 symptoms. … The study, led by researchers at NIH's National Human Genome Research Institute (NHGRI) and the … intellectual and motor functions. It also shortens patient's lives, as people with Niemann-Pick disease typically die in …