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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Genomics and Medicine
A list of interesting advances and helpful educational resources in genomic medicine compiled by the NHGRI Genomic Medicine Working Group (GMWG).
… by the NHGRI Genomic Medicine Working Group (GMWG). … Genomics and Medicine …
Staff
Beth Tuck is the chief of the Education and Community Involvement Branch at NHGRI.
… Beth Tuck, M.A. … Beth Tuck (she/her) is the chief of the Education and Community Involvement Branch at NHGRI. … is returning to NHGRI, where her previous role was as a genomics education specialist. In this role, she worked on … resources, engaging students and teachers in hands-on genomics activities, supporting teacher professional …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… Milestones In Medicine, Clinical Implementation Of Genomics, Pharmacogenomics, Oncology Sequencing, … Group has compiled a list of interesting advances. … Genomics and Medicine …
Fact Sheet
Understanding gene therapy for sickle cell disease
… worked together to develop content for the Democratizing Education for Sickle Cell Disease Gene Therapy Project, which … met over the course of four workshops. … The Democratizing Education Project welcomes your feedback about the sickle … your healthcare provider or a clinical trial team. … These education materials are the outcome of the conversations from …
Staff
Christina R. Daulton serves as the Partnerships and Engagement Officer at the National Human Genome Research Institute (NHGRI) in the Office of the Deputy Director and the Training, Diversity, and Health Equity Office.
… engages with communities around the implications of genomics research and translates complex research and … simultaneously generating learning opportunities about genomics. From 2013-2021, Ms. Daulton served as an Education Outreach Specialist in NHGRI’s Education and …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… diagnostic genetic test Broad clinical deployment of rapid genomics-based precision care in infants is eminently … annually to be highlighted as the most significant. … Genomics and Medicine …
Staff
Dr. Erin M. Ramos is the director of the Divison of Genome Sciences at the National Human Genome Research Institute.
… a program director, initially in the Office of Population Genomics and later in the extramural Division of Genomic … Knoppers B, Rehm HL, Martin CL; Clinical Genome Resource Education Working Group. Development of a consent resource … M, Junkins HA, Harlan WR, Ramos EM, Haines J. The PhenX Toolkit: get the most from your measures. Am J Epidemiol , …
Staff
Dr. Carolyn M. Hutter was the director of the Division of Genome Sciences at the National Human Genome Research Institute.​
… in the National Cancer Institute (NCI) Epidemiology and Genomics Research Program. She transferred to NHGRI in 2013 … vision for improving human health at The Forefront of Genomics . Green ED, et al. Nature . 2020 Oct; 586(7831): … Apr 5;173(2):283-285. Prioritizing diversity in human genomics research . Hindorff LA, Bonham VL, Brody LC, Ginoza …
Staff
Dr. Heidi Sofia served as a program director in the Division of Genomic Medicine at the National Human Genome Research Institute from 2010-2023.
… for The Cancer Genome Atlas (TCGA) initiative in cancer genomics, jointly managed by NHGRI and the National Cancer … as a genomic disease and driving innovation in large-scale genomics, analysis tools, and data sharing in building a … in genomic analysis, information visualization and novel toolkit development. She contributed to research in …
Staff
Dr. Michael Smith is a program director in the Division of Genome Sciences at the National Human Genome Research Institute.
… who joined the NHGRI in 2012, brought his genetics and genomics research and management expertise to the Extramural … development program and coordinate small business genomics research.  His breadth of experiences combined with … and NIH perspectives in guiding pursuit and execution of genomics research opportunities. Dr. Smith specifically …