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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
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- Impact of Genomic Variation on Function (IGVF) Consortium1
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- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… to innovative clinical trials for treatments of rare disease) as well as rotations at outstanding local … anomalies and the impact of genetic and metabolic disease on healthy and high-risk pregnancies. The fellowship is structured to allow two …
The Genomics Landscape
In the December 2024 issue of The Genomics Landscape, NHGRI Director Eric Green highlights the keynote speaker at the institute's annual symposium, Kate Rubins, a biologist and NASA astronaut who was the first person to sequence DNA in space.
… 12-13: Genomic Medicine XVI: Host Genomics and Infectious Disease December 17: Informational Webinar: ASHG-NHGRI … (ReWARD)  Research Opportunities for New and "At-Risk" Investigators to Promote Workforce Diversity …
Profile
Reflecting on his NIH career, Dr. Smith recounts his journey from researcher to program director in a conversation with NHGRI science writer Sonja Soo, Ph.D. He looks ahead to a retirement filled with traveling, spending time with friends and family, playing pickleball and brewing ale.
… studies. We worked on developing methods for mapping disease genes and studied conditions such as kidney failure … Apol1 gene region that is a major contributor to kidney disease in African Americans.  I also had the opportunity to … admixture, HIV and AIDS, cardiovascular and kidney disease. I knew it was time to change, and I had been …
The Genomics Landscape
In the May 2021 issue of the Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D. notes that a number of individuals with strong ties to NHGRI have been nominated and/or appointed to serve on the White House Science Team.
… physician-geneticist noted for his landmark discoveries of disease genes and his leadership of the international Human … insights into fundamental questions in human biology and disease. Researchers in the NHGRI Intramural Research Program … and Erin Ramos, Ph.D., M.P.H., to discuss polygenic risk scores and their potential impacts and benefits on …
News Release
Small businesses with NHGRI grants were instrumental in contributing to the completion of the human genome sequence, redefining the future of genomics.
… Circulomics’ key proprietary technique minimizes the risk of these long DNA strands from breaking. The company … vision. “We are trying to understand human health and disease and building a repository of knowledge for …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… to treat other rare genetic disorders, such as Tay-Sachs disease — a fatal condition that similarly attacks the nerve …
Profile
In a conversation, Dr. Elise Feingold reflects on her path to NHGRI, describes her experience leading the ENCODE program and shares advice for those considering different scientific careers.
… 2,000 papers in basic biology, tool development and human disease studies using the ENCODE resource. It turns out that … It's now a major target for gene therapy for sickle cell disease and beta thalassemia. To me, that is like my whole …
The Genomics Landscape
In the September 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details how social media provides NHGRI staff with a space to talk about their work, make genomics topics easy to understand, and show how genomics can positively affect people.
… genomics topics, such as genomic medicine, polygenic risk scores, bioethics, genome sequencing, diversity of the … have included an introduction to genomics, polygenic risk scores, genome sequencing, chromosomes, and biological … of extra COVID-19 vaccine dose in people with autoimmune disease Upcoming Videocasts Ninety-fourth meeting: National …
News Release
NHGRI researchers find that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening.
… by the start of the second trimester, there is less risk of developing congenital disorders when chemotherapy is …
Profile
Jim Mullikin pioneered DNA sequencing technologies during the Human Genome Project and other major advances in genomics.
… those variants and how they contribute to human health and disease.  Another big one for me was working with Svante …