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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards1
- 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
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… questions about what information they should disclose, and to whom, when genome sequencing uncovers signs of possible genetic risk for disease in patients who are too young to … consent. … In a new analysis, a working group of the Clinical Sequencing Exploratory Research (CSER) Consortium …
Policy Issues
In 2008, the Genetic Information Nondiscrimination Act was passed into law, prohibiting discrimination by employers and health insurers.
… wonder if participating in genetics research or undergoing genetic testing will lead to being discriminated against … for why or why not patients decide to take genetics-based clinical tests or volunteer to participate in the research … needed for the development of new tests, therapies, and cures. This page provides an overview of the Genetic …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… The Metabolism, Infection and Immunity (MINI) Study is a longitudinal natural history … to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. … detailed assessment. We will suggest an additional set of evaluations for some participants that we feel is appropriate …
Staff
Dr. Oleg Shchelochkov is Director of NHGRI Clinical and Laboratory Residencies and Fellowships, and an Associate Investigator in the Office of the Clinical Director.
… Dr. Shchelochkov is a board-certified pediatrician, clinical geneticist and medical biochemical geneticist, and is currently an … human Carbamoyl Phosphate Synthetase I: mutation update, diagnostic and protein structure considerations. Hum Mutat …
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 … new diagnostic tests and treatments for patients with rare genetic disorders in the NIH Clinical Center. To achieve their goals, MGB investigators …
Professional Development
ASHG and the National Human Genome Research Institute (NHGRI) co-sponsor the Genetics Education and Engagement Fellowship to support early-career genetics professionals wishing to transition to careers in genetics education and public engagement.
… … Rapid advances in human genetics/genomics research and genomic medicine are increasingly relevant to everyday … have been paralleled by innovations in science education and public engagement. ASHG and NHGRI co-sponsor the Genetics Education and Engagement …
Professional Development Programs
The Genetics and Public Policy Fellowship is designed for individuals interested in the development and implementation of genetics-related health and research policies at a national level.
… about key fellowship dates. … Advances in research and their successful translation to improve health are deeply … to informing the integration of genetics and genomics in clinical settings, sound evidence-based public policies can … and on policy issues related to genetics research and non-clinical applications of genetics in society. Congressional …
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
… Wendy Introne, M.D. … Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in … and inflammatory bowel disease. CHS is also an ultrarare genetic disorder, with an unappreciated spectrum. While the …
About NHGRI
The Board of Scientific Counselors evaluates the NHGRI intramural research programs and provides periodic technical and scientific peer review.
… The Board of Scientific Counselors previews and evaluates the intramural research programs of the … for the full board meeting at which they present their evaluations. Board of Scientific Counselors Charter … … Amos, Ph.D. Baylor College of Medicine Institute for Clinical and Translational Research Term ends 6/2026 Mildred …
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 … in understanding how disruptions in signaling pathways and transcription factors contribute to disease. Our …