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News Release
NIH will award $38.5 million over five years to the Developmental Genotype-Tissue Expression (dGTEx) project, which aims to build a widely available resource of human developmental gene expression in a multitude of tissues for use in basic and clinical research.
… over 900 adult postmortem donors. It also established a resource for researchers to explore gene expression in many … many types of tissues from children for use in basic and clinical research. “There’s still so much we don’t know about … Dayal, M.S., a program director in the National Human Genome Research Institute (NHGRI) Division of Genomic …
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.
… Raymond MacDougall … Clinical applications of genomics in neurology and psychiatry … an upcoming lecture series sponsored by the National Human Genome Research Institute (NHGRI) in collaboration with … the importance of translating genomic science into clinical care. "Physicians are inspired by genomics but need …
Genomics and Medicine
A list of interesting advances and helpful educational resources in genomic medicine compiled by the NHGRI Genomic Medicine Working Group (GMWG).
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… MacDougall … Sooner than almost anyone expected, a new, genome-based technology for demystifying undiagnosed … how rapidly the use of genome sequencing has moved into clinical practice," said NHGRI Director Eric D. Green, M.D., … Several thousand physicians already have ordered clinical genome or exome sequencing (CGES) for their …
The Genomics Landscape
In the March 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly appointed Dr. Chris Gunter's role as Senior Advisor for Genomics Engagement as well as the 30 oral histories to celebrate the 30th anniversary of the launch of the Human Genome Project.
… … Late last month, I attended the annual Advances in Genome Biology and Technology (AGBT)  general meeting. The … College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) released a new consensus recommendation  to guide …
Healthcare Provider Education Resources
An online repository of peer-reviewed collections of genomics educational materials for genetic counselors, nurses, pharmacists, physician assistants, and physicians.
Event
Joint workshop featuring overviews of Roadmap Epigenomics and ENCODE resources that are freely available for use by the research community.
… ENCODE data using the ENCODE Element Browser, exploring genome-scale chromatin interaction data using the 3D Genome Browser, and using the WashU Epigenome Browser to …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… P, Pastores G, Zimran A, Goker-Alpan O, Sidransky E. Clinical course and prognosis in patients with Gaucher … (301) 827-1877 For Basic Research, Collaboration or Clinical Trials: Ellen Sidransky, M.D. … Team … Current Research and Resources … Gaucher Disease Clinical Studies at NIH … Gaucher Disease Clinical Studies at …
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.
… R. Rodney Howell Symposium: Looking Beyond the Lamppost: Genome-first Approaches Using EHR-linked Biobanks … Platform … Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics Session A March 14, 2024, … – 5:45 p.m MTCC-701 Investigating the Impact of the 2022 ClinGen Missense Variant Interpretation Recommendations for …
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… was launched by a team of NHGRI investigators at the NIH Clinical Center in early 2019. For more information, see … study is to conduct dedicated, systematic, and long-term clinical research of patients with germline RUNX1 mutations … be collected for in-depth testing: Whole exome or whole genome sequencing, RNA sequencing on blood precursors, a SNP …