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- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- 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
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… and it is one of the few programs that emphasizes clinical research. Trainees also gain broad newborn screening … Mitochondrial diseases, metabolic disorders and cardio-genetic diseases Carlos Ferreira, M.D. Skeletal dysplasias, … Melissa Merideth, M.D., MPH Gynecologic aspects of genetic and metabolic diseases Drew Michael, Ph.D. Molecular …
Talking Glossary
Genetics is the branch of biology concerned with the study of inheritance, including the interplay of genes, DNA variation and their interactions with environmental factors.
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5. … Cri du … symptoms of cri du chat syndrome usually include a high-pitched cat-like cry, mental disablity, delayed …
News Release
The American Society of Human Genetics and NHGRI have teamed up to sponsor the new Genetics and Education Fellowship.
… policy issues,according to the National Human Genome Research Institute's (NHGRI) 2011 strategic plan. … To help … 2015, the fellow will move to ASHG to conduct educational research and develop educational programs for a wide range of … and handle issues and projects dealing with biomedical research, health or science. The fellow will complete the …
Policy Issues
In 2008, the Genetic Information Nondiscrimination Act was passed into law, prohibiting discrimination by employers and health insurers.
… Many Americans wonder if participating in genetics research or undergoing genetic testing will lead to being discriminated against … that the testing was a way of determining whether the high incidence of repetitive-stress injuries among its …
Staff
Julie Sapp is a genetic counselor in the NHGRI in the Genomic Services Research Program (GSRP).
… Julie Sapp works as part of a multi-disciplinary research team where she draws upon her genetic counseling training and over a decade of behavioral … questions related to the practice of clinical genomics and genetic counseling. Her work in this area has included …
Staff
Katie Lewis is a genetic counselor in the NHGRI Genomic Services Research Program (GSRP).
… Katie L. Lewis, Sc.M., C.G.C. … Katie Lewis is a genetic counselor in the Genomic Services Research Program (GSRP). She got her degree in genetic counseling from the Johns Hopkins University/National …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… of Hereditary Transthyretin Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics Session A …  No. Title P006 Evaluation and Application of a Genetic Risk Score for Uric Acid in Trans-Ancestry All of Us … … On March 12–16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG …
Research at NHGRI
NHGRI researchers are creating foundational tools and methods to expand genomics research, ultimately leading to medical breakthroughs.
… Genetic diseases affect millions of Americans every day, and research is key to improving our ability to diagnose and treat these diseases. At the National Human Genome Research Institute, our researchers are creating foundational …
Research at NHGRI
NHGRI center focused on computationally intensive approaches to analyze large-scale genomic data and identifying genetic contributions to human disease.
… The Center for Genomics and Data Science Research focuses on the development and application of … intensive approaches to analyze large-scale genetic and genomic data, with a particular focus on identifying genetic contributions to human disease. … Genomics is, …