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- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program4
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… the Molecular Neurogenetics Section, is a pediatrician and clinical geneticist in the Medical Genetics Branch of the National Human Genome Research Institute at the National Institutes of Health in … University, and completed fellowship training in clinical genetics at the NIH Genetics Training Program. Dr. …
Research at NHGRI
NHGRI's research focuses on the understanding of human biology and developing new methods for treating disease.
… The National Human Genome Research Institute (NHGRI) conducts a broad program of laboratory and clinical research to translate genomics into a greater understanding …
The Informed Consent Resource
Explore genomics-relevant considerations for informed consent and guidance on how to approach them.
… about the risks and benefits of participating in a research project. … The informed consent process and consent … whether, and with whom, their post-mortem results of clinical relevance should be shared, and any authorization to … not to learn about a piece of information that has clinical significance for their child. Researchers should …
The Genomics Landscape
In the October 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, reflects on the twelve years of groundbreaking research by the Clinical Sequencing Evidence-generating Research (CSER) consortium.
… significant role of VNTRs in human traits.  This research was funded by NIH through a grant to Steven … Project Grant Program ( PA-19-056 ). …  Since 2011, the Clinical Sequencing Evidence-generating Research (CSER) … using a person’s genomic information as part of their clinical care). However, there are many potential barriers to …
Research at NHGRI
The Metabolic Medicine Branch houses clinical and laboratory research programs that focus on the development of new therapies for patients with genetic disorders.
… The Metabolic Medicine Branch (MMB) houses clinical and laboratory research programs that focus on the development of new … Medicine Branch involves interconnected laboratory and clinical projects focused on several conditions, including …
Research Training
The NHGRI Social and Behavioral Research Branch invites recent graduates to pursue multidisciplinary training in genomics and health.
… The Social and Behavioral Research Branch (SBRB), an intramural research branch of the National Human Genome Research … social and behavioral scientists, clinical investigators, and bioethicists during their …
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
… Judith Wyatt … Dr. William Gahl, clinical director at the National Human Genome Research Institute (NHGRI), has given dozens of lectures … Lecture on March 23 in Phoenix for the March of Dimes Clinical Genetics Conference, he wanted to inspire. "As …
Research at NHGRI
The Division of Intramural Research conducts scientific studies in NHGRI's labs on and around the NIH campus in Bethesda, Md.
…  - a group that provides expert external oversight for all research and training ongoing in the NHGRI Division of Intramural Research. Clinical research is overseen by the Clinical Director, who provides guidance and support for all …
News Release
NIH submits new policy that requires all NIH-funded investigators who conduct sensitive, health-related research be issued Certificates of Confidentiality.
… 13, 2016, was to strengthen privacy protections law for research participants. The new law specifically requires … is collected from participants as part of federally-funded research. … To implement one of the law's privacy provisions, … who conduct sensitive, health-related human subjects research be issued Certificates of Confidentiality . …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… use is not carefully monitored and managed, according to a research team led by scientists at the National Human Genome … researchers contend that there is a need for more rigorous clinical study of dietary management practices for patients … In the MMA study, led by Irini Manoli, M.D., Ph.D., a clinical and biochemical geneticist in NHGRI's Organic Acid …