Search Results
Event
Annual scientific lecture honoring NHGRI's founding scientific director, Jeffrey M. Trent, Ph.D.
… December 9, 2021, at 2:00 p.m. - 3:00 p.m. Eastern Sharon E. Plon, M.D., Ph.D., professor at the Departments of …
Fact Sheets
Data used to estimate the cost of sequencing the human genome over time since the Human Genome Project.
… activities directly related to sequence production (e.g., laboratory information management systems and initial … covered by significant subsidies to a sequencing center (e.g., a grantee institution providing funds for purchasing … Data analysis downstream of initial data processing (e.g., sequence assembly, sequence alignments, identifying …
Research at NHGRI
CRGGH develops a comprehensive staff and training program that uses genomic approaches to study human health and to reduce/eliminate health disparities.
… and Humanities University of Washington Francisco E. Baralle, M.D., Ph.D. Director-General, International …
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… 9.15 - 10.15 am Mitochondrial Disorders Ms. Lynn e Wolfe , CRNP, NHGRI 10.15 - 10.30 am Break 10.30 - 11.30 am … 9.00 - 10.00 am What Makes Research Ethical? Mr. Ben Berkman, Deputy Director, Bioethics Core, NHGRI 10.00 - 10.30 …
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… the clinical setting with our NHGRI clinical director, Dr. Benjamin Solomon. Dr. Solomon will answer questions from …
Staff
Dr. Suzanne Hart was the deputy director of the Medical Genetics and Genomic Medicine Fellowship Training Program until she retired in late 2023.
… group has discovered mutations in a number of genes (e.g., AMELX, ENAM, KLK4, MMP20 , and DSPP ). A large … MD, Ryu OH, Uygur C, Ozdemir D, Firatli S, Aren G, Firatli E. Novel ENAM mutation responsible for autosomal recessive … Cogulu D, Emingi G, Ozenen DO, Han ST, Sulima PP, Firatli E, Hart TC. Novel FAM83H mutations in Turkish families with …
Research Funding
Applications demonstrating excellent grantsmanship, grant mechanisms and research methodologies common to ethical, legal and social implications research.
… personalized medicine: driver, impediment, or both? Gary E. Merchant 2011 Summary Statement Full Application … we have redacted some information from these documents (e.g., budgets, social security numbers, home addresses, …  Most substantive components of the application (e.g. Project Abstract, Budget Justification, Specific Aims, …
Policy Issues
Most ethical discussions about genome editing center on human germline editing because changes are passed down to future generations.
… considerations. … [1] National Academies of Sciences, E., Medicine,. (2017). Human Genome Editing: Science, Ethics, … 12, 108. doi:10.1186/1477-7827-12-108 [4] Lanphier, E., Urnov, F., Haecker, S. E., Werner, M., & Smolenski, J. (2015). Don't edit the human …
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… awards that represented their respective committees. Th e committee achieved this goal. The following members were … es, Meetings, and/or Events: Working with office staff on e-Updates newsletter, redesi gn of website, coordination of … University Sivia Barnoy Tel-Aviv University Caroline Benjamin School of Health, University of Central Lancashire …
Summit
This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics.
… in human genes and their association with disease (e.g. Human Variome Project, UNESCO, ClinVar, ExAC etc.). It …