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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
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 …
Event
The NHGRI Education and Community Involvement Branch is co-hosting a webinar on January 9 with the Undergraduate Genetics Education Network that will explore the changing landscape of genetics from a largely descriptive field and emerging creative fields.
… co-hosting a webinar on January 9 with the Undergraduate Genetics Education Network (UGEN) for the 5th Annual Virtual Workshop titled "Genetics Reimagined: Preparing Students to Explore the … workshop will explore the changing landscape of genetics from a largely descriptive field (how does it work?) …
Jobs at NHGRI
Postdoctoral positions are available in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National Human Genome Research Institute, at NIH.
… in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National … Description … Qualifications … How to Apply … Cancer Genetics and Comparative Genomics - SMAD2 … Postdoctoral … in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National …
Jobs at NHGRI
Postdoctoral positions are available in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National Human Genome Research Institute, at NIH.
… in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National … Description … Qualifications … How to Apply … Cancer Genetics and Comparative Genomics - ALK2 … Postdoctoral … in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National …
Summit
This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics.
… The International Summit in Human Genetics and Genomics is a 5-year initiative (2016-2020) … lag for inclusion of genetics and genomics in research and clinical practice. Integrate accurate genetic and genomic information, and its related technologies in clinical practice, for the diagnosis, treatment and …
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) …
Research at NHGRI
The NHGRI Intramural Research Award recognizes research achievements by trainees in basic, clinical, and social behavioral science research.
… the NHGRI Intramural Research Program, including basic, clinical, and social behavioral science research. To date, … recognizes research achievements by trainees in basic, clinical, and social behavioral science research. … NHGRI Intramural Research Program, Basic Research, Clinical Research, Social Behavioral Science Research, …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… The Medical Biochemical Genetics Fellowship Program is a one-year fellowship program … program and it is one of the few programs that emphasizes clinical research. Trainees also gain broad newborn screening … at the Maryland Newborn Screening Laboratory, one month of clinical research at NIH and three and a half months of …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… March 23, 2017, in the American Journal of Medical Genetics , is to help healthcare providers better recognize … M.D., M.P.H., a medical geneticist in NHGRI's Medical Genetics Branch . "Even experienced clinicians have … Credit: Paul Kruszka, et al. The researchers studied the clinical information of 106 participants and photographs of …
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, …