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- Ethical, Legal and Social Implications (ELSI) Research Program6
- 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
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) provides a venue for individuals to … are considered specialists in genetics and genomics: Clinical geneticists (M.D.s and D.O. degrees certified by the …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) provides a venue for individuals to … to apply knowledge from a broad knowledge base to support clinical judgments (Essential 1.3).  Genomics is an …
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 … that defines the clinical relevance or validity of genes in various genetic disorders for their use in precision … ClinGen is providing much needed clarity for the clinical genomics community regarding which gene-disease pairs have …
Media Availability
Researchers have created a promising new method to accurately and more comprehensively analyze and interpret DNA sequence information from cancer patients.
… have created a promising new method to accurately and, in some cases, more comprehensively analyze and interpret DNA … mutations and variations and ranks them according to their clinical and biological relevance to a patient's cancer. … … Exploratory Research Program, exome, clinical cancer care … Researchers have created a promising new method to …
News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
… develop effective approaches to diagnose them. The clinical sites will conduct clinical evaluation and scientific investigation in cases that involve patients with prolonged undiagnosed … Institute. "Along with robust clinical evaluations, genomics will play a central role in the UDN's mission." Dr. …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. Mitochondrial … interested in research. Although we do provide advice and care for people enrolled in our study, we are not able to …
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… the opening talk at the fourth annual International Summit in Human Genetics and Genomics at NIH last month. The month-long summit is designed … the human genome reference sequence useful to basic and clinical researchers and to increase the representation of …
News Release
Mothers may be able to reduce guilt over their children's inherited obesity guilt by being more careful in the future about their children's diet.
… be a downside, of course. Healthcare providers who discuss genomics and behavioral risk factors with overweight mothers … may be able to reduce that guilt by being more careful in the future about their children's diet, Dr. Persky's team … that we don't know," Dr. Persky said. "Any of the clinical discussions that are happening these days are …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… Dr. Biesecker is a clinical and molecular geneticist and is the chief of the … medical training at the University of Illinois, training in pediatrics at the University of Wisconsin, and in clinical … Society of Human Genetics for 2019. … The Precision Genomics Section research program focuses on understanding …
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… Human Genome Research Institute where she serves as deputy clinical director and directs the Pediatric Undiagnosed Diseases Program. Dr. Tifft received her B.A. in biology from Revelle College at the University of California at San Diego and her M.S. in genetic counseling from Rutgers University. She received …