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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… groups on helping families prepare for a child with a genetic condition Craig et al. J Community Genet . 2023 Apr …  In the past 10 years, the ability to screen for genetic conditions during pregnancy has improved … use of population descriptors such as race, ethnicity, and ancestry in genetics and genomics research. The committee …
Staff
Vence Bonham is the acting deputy director for NHGRI and an associate investigator in NHGRI's Social and Behavioral Research Branch.
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… also studied health care professionals’ understanding of genetic variation, using the GKAI scale, which he developed, … to measure their knowledge, beliefs, and attitudes about genetic variation. This research examines clinical decision … … Vence Bonham, health disparities, race and ethnicity, ancestry, genetic variation, sickle cell trait, sickle cell …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… of rare metabolic disorders and the discovery of new genetic diseases. He elucidated the basic defects in … bleeding, and pulmonary fibrosis. His lab discovered the genetic bases of gray platelet syndrome, Hartnup disease, … in the section has been to discover the causes of genetic diseases. Over the years, section members have …
Event
On November 5-9, 2024, 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
… Medical, Lay Language, and Self-Reported Descriptions of Genetic Conditions 1069T Brian N Lee Understanding ableism in abstracts for genetic and genomic autism research 6044T Dayo Shittu Genetic … islet cell depletion exacerbated in individuals of African ancestry with Type 2 diabetes 5169F Tam Tran Efficient large …
Staff
Elaine Ostrander is chief of NHGRI's Cancer Genetics and Comparative Genomics Branch.
… and uniformity provides an exceptional opportunity for genetic dissection of biological processes, her lab has … lab is focused on three primary regions of canine genetic research: drivers of behavioral and morphological … loci, with a special focus on men of African ancestry. … Ostrander EA, Wang GD, Larson G, vonHoldt BM, …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… the fetal transcriptome to develop new therapies for genetic disorders that can be given prenatally. Dr. Bianchi … pathways that are affected by these different genetic, developmental and environmental conditions, and …
Careers and Training
Scientists and thousands of other professionals are using discoveries in genetics to revolutionize the world. This means careers in genetics and genomics are booming. And there are many other careers you don’t usually think of as science, like education, social work, and even law and the arts that are affected by this growth, creating even more career opportunities.
… comprehensive laboratory, diagnostic, management, and genetic counseling services for patients with, or at risk for, genetically influenced health problems. Genetic counselor Genetic counselors are professionals with education in …
Event
On October 25-29, 2022, 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.
… Complex Traits Quantification of race, ethnicity, and genetic ancestry disparities in anti-hypertensive drug efficacy in … Exhibit Hall 3:00 p.m. — 4:45 p.m. Mendelian Phenotypes Genetic analysis reveals that GNE Myopathy remains an …
Professional Development
This is a fellowship program designed for recent undergraduates to gain exposure to and training in multiple career paths that advance public service for human genetics and genomics.
Professional Development Programs
Provides exposure to the broader genomics community and experts in the field, with the opportunity to work on a genetics/genomics-related education projects under the mentorship of an ISCC-PEG member.
… Beeman, BS Ohio State University College of Medicine, Genetic Counseling Graduate Program, Columbus, OH Richard L. … Medical Center  Vanessa Smith, BS Master of Science, Genetic Counseling, Vanderbilt University, Nashville, TN … Ph.D. NHGRI  Swathi Balaji, BA Master of Science, Genetic Counselor/Counseling, Master of Public Health, …