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Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… commitment to developing prenatal treatments for Down syndrome. They hypothesize that giving safe and efficacious … chromosomes, and fetuses with trisomies 21 or 18, Turner syndrome (45, X), Fragile X, twin to twin transfusion syndrome, and myelomeningocele. We have also explored the …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… Hermansky-Pudlak syndrome (HPS), gray platelet syndrome, Hutchinson-Gilford Progeria syndrome, GNE myopathy, albinism, autosomal …
Intramural Training Office
Three-minute talk (TmT) presentation videos from previous years dating back to 2015.
… for Disease Progression and Response to Treatment in Hutchinson-Gilford Progeria Syndrome Abhirami Thaivalappil Postbaccalaureate …
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
… – 4:30 p.m. . Seyma Eroglu Ankylosing spine-brachydactyly syndrome: A possible novel skeletal dysplasia 2010T Kendall … for Genetic Disorders Platform talk: Rescue of Proteus syndrome lethality in mice with prenatal miransertib …
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… vaccine candidate begins Study ties COVID-19-related syndrome in kids to altered immune system NIH-supported study …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… IDH1 mosaicism P237 Diagnosis of Cornelia de Lange Syndrome Through EPISign Whole Genome Methylation Assay: …
The Genomics Landscape
In the September 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, recaps the April 2023 virtual reunion of the leaders of the five genome-sequencing centers (G5), where they tell the untold story on how they ushered the Human Genome Project across the finish line in 2003.
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… for 17 genes reported to be associated with long QT syndrome, a congenital heart condition that predisposes … as having limited or disputed evidence for causing the syndrome, and confirmed only three of the genes to be … awards to support training in research related to Down Syndrome as part of the INCLUDE Project Mentored career …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… discover a new autoinflammatory disease called CRIA syndrome Notable accomplishments in genomic medicine Genomics …
The Genomics Landscape
In the July 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., emphasizes the importance of the Technology Transfer Office and its mission to manage all the legal negotiations that help to protect federally funded research from being unduly exploited, while also giving that research avenues to reach patients through the commercialization of promising advances.
… Research Using AI to advance understanding of long COVID syndrome Immune modulator drugs improved survival for people …