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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 Program2
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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 genetic changes affect the structure and function of gene products leading to human disease. … A major focus of … and better understand pathways involved in human genetic diseases and normal development. Model systems, including …
Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… The Genetics and Molecular Biology Branch uses state-of-the-art genetic and genomic technologies to study the genomes of … improved diagnosis, treatments and prevention of human diseases. Using the excellent resources of NHGRI intramural …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
… Amy Bentley … Over the past year, the Intramural Research Program of the National Human Genome Research Institute (NHGRI) has been reorganized. As part of this reorganization, the Center for Research on Genomics …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… (MCIDGB) studies the genomic and social determinants of complex diseases. … Investigators focus, in particular, on diseases … and interpret the non-random distribution of human genetic variation, as well as to understand human history and …
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 understand inherited disorders of metabolism and of human development. MGB investigators … new diagnostic tests and treatments for patients with rare genetic disorders in the NIH Clinical Center. To achieve …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… to develop a graphical display illustrating the scale of human genome sequence. The wall is now enhanced with a … our common goals of understanding and treating common diseases. …  Launched in 2012, the NHGRI History of … improved gene therapy in sickle cell disease Finding new genetic mutations amid healthy cells ‘Sticky’ gene may help …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… to cancer susceptibility syndromes and to the development of various aggressive cancers, including prostate, … gastric cancers. They also study the relationship between genetic variation and cancer progression and pursue the … tools are applied to  studies of cancer as well as other diseases.  Asks questions and develops tools to better …
Research at NHGRI
The NHGRI Division of Intramural Research aims to advance the frontiers of genetics and genomics.
… The goal of the National Human Genome Research Institute's (NHGRI) … treatment, prognosis, and prevention of rare and common diseases. The study of genomic variation and its effects on … high-risk strategies that utilize a wide range of genomic, genetic, computational, and high-throughput methodologies. …
The Genomics Landscape
In the September 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the American Society of Human Genetics' (ASHG) new strategic plan, which aims to get people everywhere to realize the benefits of genomics and genetics research.
… to the genomics revolution. Kary Mullis, inventor of the polymerase chain reaction (PCR) and Nobel Prize … an informed public. Establishing how best to advance genetic and genomic literacy is a major challenge. No one … and efficacy; the use of genomic medicine for undiagnosed diseases; using family health history to assess risk; and …
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
… That event was extremely helpful in revealing some of the major issues that are on the minds of genome … as plot points for television dramas. The Undiagnosed Diseases Program (UDP) was conceived by Dr. William Gahl … cardiology, and genetics. Dr. Gahl, an expert on rare genetic diseases, served as the founding Director of the UDP …