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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)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- 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
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… (NHGRI) has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the NHGRI Division of Intramural … His efforts will integrate laboratory-based and clinical methods to study several pediatric diseases, …
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… the researchers at the National Institutes of Health (NIH) Clinical Center. … Transformative Research Rohith is just one … taking place at NIH is critical. The same cutting-edge clinical medicine that was used to help Rohith might help … M.D., and Tina Romeo, research nurse gather at the NIH Clinical Center to discuss the patient's care. Image Credit: …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… how rapidly the use of genome sequencing has moved into clinical practice," said NHGRI Director Eric D. Green, M.D., … Several thousand physicians already have ordered clinical genome or exome sequencing (CGES) for their … Biesecker, chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, predicted that about 10,000 such tests will …
News Release
NHGRI researchers asked patients, parents and physicians in the sickle cell disease community (SCD) what they wanted and needed to know about genome editing to make informed decisions about participating in genome-editing clinical trials.
… are seriously ill may overestimate the benefits of early clinical trials while underestimating the risks. This makes … informed decisions about participating in genome-editing clinical trials. Gene-editing treatments, which appear to … can influence a person’s decision to participate in a clinical trial. “Designing clinical trials for curative …
News Release
Genomicists and clinicians are beginning to offer patients genetic testing for a list of treatable diseases apart from the one that brought them into the clinic.
… for variants that could cause health problems. At the NIH Clinical Center, researchers took a blood sample from Bryant. … our genomes. In July 2013, the American College of Medical Genetics and Genomics issued a recommendation that people who have their genomes sequenced in a clinical setting should also have their genomic data screened …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… a little-known inherited heart condition. However, the Clinical Genome Resource ’s (ClinGen) expert panel has … ClinGen is an NHGRI-funded resource that defines the clinical relevance or validity of genes in various genetic … Brugada syndrome. In 2019, the American Society of Human Genetics considered the paper as one of the top 10 advances …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… to transition to independent careers in the research and clinical workforce. Realizing a diverse workforce will … field of genomics. … Postgraduate training in medical genetics has been a cornerstone of clinical training at the National Institutes of Health (NIH) …
News Release
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.
… in mice. “A mouse model that more precisely captures the genetics of Down syndrome has important implications for human clinical trials that aim to improve cognition,” said Diana W. … of Down syndrome has important implications for human clinical trials that aim to improve cognition. Importantly, …
The Genomics Landscape
In the June 2, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new and improved Talking Glossary of Genomic and Genetic Terms - one of the premier educational resources offered by NHGRI, and it aims to help users better understand the basics of genomics and genetics.
… to help users better understand the basics of genomics and genetics. While reformatted and expanded a few times over the … of remote-learning resources to help make genomics and genetics more accessible and understandable to a wide array … of the first researchers to stand up a microbiome-focused clinical protocol at NIH, work that has proven highly …
News Release
The Genetic Counseling Training Program, a collaborative program between the National Institutes of Health and Johns Hopkins University, will be undergoing program planning and development that will reshape training of genetic counselors across the career spectrum.
… degree program has been educating students in human genetics, genetic counseling, public policy, research …