Search Results
Staff
Dr. Laura Koehly is the chief of and senior investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.​
… genetic risk communication within families for whom Lynch syndrome mutations and, separately, BRCA1/2 mutations, have … Reveal Two Growth Phenotypes in Mouse Models of Down Syndrome . Am J Obstet Gynecol . 2023 Aug … of Public Health , 99(12): 2203-9. 2009. Ersig, AL, Williams, JK, Hadley, DW, and Koehly, LM. Communication, …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… disease PB2372 Gustavo Nieto-Alamilla Hermansky-Pudlak Syndrome: Exploring the therapeutic effect of gene therapy … in human cancers PB5151 Molly Behan Hermansky-Pudlak Syndrome: Using AAV vectors to understand the development of …
News Release
Clinical applications of genomics in neurology and psychiatry will be the focus of the 2014 lecture series Genomics in Medicine at Suburban Hospital.
The Genomics Landscape
In the February 2, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about the new NIH Data Management and Sharing (DMS) Policy and how it emphasizes the importance of good data management practices.
… Theater and broadcast live for online viewing. Chris Williams, Ph.D. , STEM Education Specialist at NMAAHC, will … advance rapid diagnosis of COVID-19-related inflammatory syndrome in children Upcoming Videocasts Genomics and Health …
Event
On February 9-10, 2021, NHGRI will host it's 13th Genomic Medicine Meeting - Genomic Medicine XIII: Developing a Clinical Genomic Informatics Research Agenda.
… Co-Chairs: Ken L. Wiley Jr., Ph.D. and Marc S. Williams, M.D. 12-10 - 12:30 p.m. - 2020 NHGRI Strategic … M.B.A., Ph.D. 12:30 - 1:45 p.m.  Survey Review Marc S. Williams, M.D.  Technical desiderata for gCDS: A Reflection … and Introductions Ken L. Wiley Jr., Ph.D. and Marc S. Williams, M.D. Session 4: Defining a research agenda that …
File
… et al. Specific amino acid changes of congenital nephrotic syndrome in Indonesia. 2017 (In preparation). 5. Ariani Y , … of Human Malformation syndromes in Diverse populations (Williams Syndrome, … 22q11.2 Syndrome, Turner Syndrome, Noonan Syndrome, Williams Syndrome). (University of Sri Lanka and NHGRI, NIH). …
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.
… that is associated with melanoma and Waardenburg syndrome type 4. His team also helped to identify the …
Professional Development Programs
JHU/NIH GCTP Executive Committee is composed of genetic counselors, social scientists and medical geneticists. Their varied backgrounds are an asset to the Program and to students as they develop their thesis.
Training, Diversity and Health Equity Office (TiDHE)
The Diversity Centers for Genome Research Consortium aims to support the development of innovative genomic research projects through infrastructure building and the formation of interdisciplinary research teams at Minority Serving Institutions (MSIs), institutions with a documented record and/or historical and current mission of recruiting, educating, training and graduating students from any of the populations identified as underrepresented in biomedical research.
… Center for Genome Research Principal Investigator: Sarah Williams-Blangero, Ph.D.  University of Texas Rio Grande … Co-Chair: Eron Manusov … Steering Committee Chair: Sarah Williams-Blangero Ph.D., UTRGV Co-Chair: Lang Wu Ph.D., UH … Committee Chair: Anil Shanker Ph.D, MMC Co-chair: Sarah Williams-Blangero Ph.D., UTRGV Co-Chair: Lang Wu Ph.D., UH …