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- 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
- 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
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)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 … University, and completed fellowship training in clinical genetics at the NIH Genetics Training Program. Dr. …
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 … Lecture on March 23 in Phoenix for the March of Dimes Clinical Genetics Conference, he wanted to inspire. "As geneticists, …
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
… The Combined Pediatrics and Medical Genetics Residency Program is a remarkable opportunity for … Combined residents gain broad experience in pediatrics, clinical and molecular genetics, metabolic diseases, and … residency program at CNH and the remaining 50% in a clinical genetics residency, which entails seeing patients at …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
News Release
Healthcare professionals now have access to a range of educational and clinical genomics resources on the Genetics/Genomics Competency Center website
… now have access to a variety of educational and clinical genomics resources thanks to a new partnership … medical societies. The resources are available on the Genetics/Genomics Competency Center (G2C2) website, a free, … Society of Genetic Counselors , the American College of Clinical Pharmacy , and The Jackson Laboratory are the first …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… becomes routine. Evidence regarding the most promising clinical applications and the specific diseases or individual … Incorporation of comprehensive genomic sequence data into clinical care will require changes to institutional policies, … professional medical organizations outside of medical genetics as well as with payers and policymakers, to ensure …
Educational Resources
Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family.
… a healthcare provider with specialized knowledge of genetics and an individual or family. … Genetic Counseling, … a healthcare provider with specialized knowledge of genetics and an individual or family. … Educational Resources …
Educational Resources
Genetic discrimination is prejudice directed against people who have or may have a genetic disease.
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… Ophthalmological findings in Gaucher disease . Molecular Genetics and Metabolism , 127:23-27, 2019. Ryan E, Seehra G, … P, Pastores G, Zimran A, Goker-Alpan O, Sidransky E. Clinical course and prognosis in patients with Gaucher … (301) 827-1877 For Basic Research, Collaboration or Clinical Trials: Ellen Sidransky, M.D. …
Event
Pre-Application Webinar for the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space Clinical Resource (ACR) (U24 Clinical Trial Not Allowed) Funding Opportunity Announcement
… Science Analysis, Visualization, and Informatics Lab-space Clinical Resource (ACR) (U24 Clinical Trial Not Allowed)  NOT-HG-23-003 : Notice of … Science Analysis, Visualization, and Informatics Lab-space Clinical Resource (ACR) (U24 Clinical Trial Not Allowed) …