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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… The Medical Genetics Branch (MGB) seeks to identify and … the Branch. … Overview … Branch Staff … Featured Content … Medical Genetics Branch … The Medical Genetics Branch studies inherited disorders of …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… pandemic, I would — as I have in previous issues of The Genomics Landscape — like to offer some “remote learning” … and the field of genomics. … Postgraduate training in medical genetics has been a cornerstone of clinical training … of seven training programs spanning various aspects of medical genetics and genomics. These programs offer trainees …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… Steven Benowitz … Many "medical foods" are designed to help manage patients with rare … which may in turn result in the need to reformulate some medical foods. In two studies appearing online August 13, … issue of Genetics in Medicine , the researchers note that medical foods, including those given to patients with …
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… of the National Human Genome Research Institute's (NHGRI) Medical Genomics and Metabolic Genetics Branch. But even with the … without its challenges. With more genomic advances in the medical arena comes a wider gap in training scientists and …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… - is moving from research laboratories into general medical practice. Now, two leading scientists have sketched … M.D., M.P.H., of Brigham and Women's Hospital and Harvard Medical School, Boston, note in the June 19, 2014, issue of … of Medicine (NEJM) . Biesecker, chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, predicted that about …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… past few months, NHGRI staff will continue pursuing our genomics-driven mission, whether working remotely from home … are now available online . … The American College of Medical Genetics and Genomics (ACMG) recently published … is essential that it becomes appropriately integrated into medical systems such as EHRs. The ACMG guidance addresses …
News
NHGRI launched a new round of strategic planning to establish a 2020 vision for genomics research that will accelerate scientific and medical breakthroughs.
… strategic planning that will establish a 2020 vision for genomics research aimed at accelerating scientific and medical breakthroughs. … Accelerating Breakthroughs In … area of biomedical research and a growing component of medical care, with far-reaching implications for society. As …
News Release
Diverse populations are still underrepresented in public genomic databases, according to a new study by researchers from the NIH and Harvard Medical School.
… Institutes of Health and Partners Healthcare/Harvard Medical School.* … Diverse Groups Underrepresented in Genomic … Bonham is also the Senior Advisor to the NHGRI Director on Genomics and Health Disparities. "Because genomic information … the study's first author and a genetics fellow at Harvard Medical School. The researchers noted that policies and …
News Release
Fearful patients who received information about the role of genomics in obesity were less likely to take steps to improve health habits
… patients who received information about the role of genomics in being overweight viewed the information as … … Obesity and genomic information, obesity and genetics, medical information and fearfulness, emotions and medical decisions, Social and Behavioral Research Branch, …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… from home. If you are seeking some virtual connections to genomics, I would like to offer some “remote learning” … Director) and I answered questions about bioethics and genomics research on Twitter as part of #AskDrGenome . Meanwhile, the NHGRI History of Genomics Program continues to showcase oral history …