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Staff
Dr. Manfred Boehm is a an adjunct investigator for the Office of the Clinical Director at NHGRI.
… Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum RL, Kleta R, Gahl WA, Boehm M. NT5E mutations and arterial calcifications. …
Staff
Dr. Acosta is a board-certified pediatric neurologist with the NIH Undiagnosed Diseases Program's GM1 gene therapy trial.
… PR, Pierson TM, Soldatos A, Toro C, Markello T, Adams DR, Gahl WA, Yousef M, Tifft CJ. Risks and benefits of … S, Thurm A, Adams DR, Introne WJ, Gorski SM, Boerkoel CF, Gahl WA, Tifft CJ, Malicdan MCV. Bi-allelic ATG4D variants … Domené S, Vélez JI, Karkera JD, Balog J, Berg K, Kleta R, Gahl WA, Roessler E, Long R, Lie J, Pineda D, Londoño AC, …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in September 2023.
… for Information 11 Fiscal Year 2024 Appropriations Senate Bill for Labor, Health and Human Services, Education, and Related Agencies Fiscal Year 2024 Appropriations House Bill for Labor, Health and Human Services, Education, and …
The Genomics Landscape
In the February 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Genome Statute and Legislation Database, which recently received a major revamp to help researchers, policy analysts, and the public more easily find state-level legislation related to genomics.
… a state’s legislative process. This last metric, known as bill status, is one of the many searchable features in GSLD. Users can look up entries by keyword, state, bill status, or even topic. Some featured topics include …
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.
… Kastner, M.D., Ph.D. , Scientific Director, NHGRI William Gahl, M.D., Ph.D. , Head, Undiagnosed Disease Program and …
The Genomics Landscape
In the October 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, reflects on the twelve years of groundbreaking research by the Clinical Sequencing Evidence-generating Research (CSER) consortium.
… retired at the end of September. For nearly 30 years, Bill led a research group that aimed to understand genome … type C1. A scientific symposium was held at NHGRI in Bill’s honor at the end of September. … Genomics Research NIH …
The Genomics Landscape
In the February 12, 2021 edition of The Genomics Landscape, Dr. Eric Green talks about the 20-year anniversary of the publications that reported the draft human genome sequence.
… of that milestone in October 2020. In June 2000, President Bill Clinton held a press conference at the White House to … Sellers on combatting COVID-19 Dr. Collins joins Senator Bill Frist’s podcast A Second Opinion to discuss the Human …
File
… NEI 11.30 - 12.30 pm NIH Undiagnosed Disease Program Dr. Bill Gahl , Clinical Director & Head, Undiagnosed Disease Program …
Professional Development Programs
Meeting a JHU/NHGRI Genetic Counseling Training Program graduate will help you learn more about the program and may help when deciding whether to apply.
… - 1:00 p.m: Health Judgment and Decision-making class. Dr. Bill Klein lectures and leads discussions about the … those working around me at NIH. 5:30 p.m: Journal club at Bill Klein’s house. We discuss the importance of …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in February 2024.
… Year 2024 Appropriations Continuing Resolution Senate Bill for Labor, Health and Human Services, Education, and Related Agencies Fiscal Year 2024 Appropriations House Bill for Labor, Health and Human Services, Education, and …