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News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… and Blood Institute launched the Centers for Mendelian Genomics (CMGs) program nearly four years ago, it was charged … in New Haven, and principal investigator of the Yale center. "One question was whether the major task at hand was … of challenges ahead in identifying and understanding the genomics of Mendelian disease. "The only way that the centers …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… our COEH cohort and better characterize the vascular and clinical phenotype of gene variant carriers.    Severe … diagnostic targets to improve the safety of this important clinical intervention.  … UK. There, he completed a D.Phil. in Human Genetics and Clinical Medicine in the laboratory of Prof. Dominic …
Event
NHGRI will hold a third pre-application webinar about the Notice of Funding Opportunity (NOFO) RFA-HG-23-002, for potential applicants on May 3, 2024 at 2:30 pm ET.
… third pre-application webinar about the Notice of Funding Opportunity (NOFO) RFA-HG-23-002 , for potential applicants … 3rd Webinar: Broadening Opportunities for Computational Genomics and Data Science Education NOFO … third pre-application webinar about the Notice of Funding Opportunity (NOFO) RFA-HG-23-002, for potential applicants on …
News Release
The Genetics/Genomics Competency Center (G2C2) resource has been expanded to include a new collection of resources for physicians.
… The Genetics/Genomics Competency Center (G2C2) - www.g-2-c-2.org - is a … classroom and for self-directed learning in genetics and genomics, created by the National Human Genome Research … to bridge the gap," said Jean Jenkins, R.N., Ph.D., NHGRI clinical advisor, Genomic Healthcare Branch. "Genomic …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… 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 … of Medicine (NEJM) . Biesecker, chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, predicted that about …
Policy Issues
Participating in genomics research is an opportunity to support exploration of the genome and help scientists understand, prevent, detect and treat disease.
… Participating in genomics research is an opportunity to support scientific exploration of the genome … some care as part of your participation. To receive clinical care, you should consult your regular physician. How … consideration that is especially important to consider for genomics research since genomic information is hereditary and …
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… Human Genome Research Institute where she serves as deputy clinical director and directs the Pediatric Undiagnosed … School of Biomedical Science at M.D. Anderson Cancer Center and her M.D. from the University of Texas Health … and undiagnosed diseases.  For many years, Dr. Tifft's clinical and research interests have been lysosomal disorders …
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.
… Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics Session A March 14, 2024, … of Us Cohort P058 Design of the Prospective Study of the Clinical, Laboratory, and Dietary Determinates of Outcomes in … Pathways by Differential Tractography Correlate with Clinical Outcomes Following Gene Therapy for GM1 …
News Release
NHGRI has selected Adam Phillippy, Ph.D. as the founding director of the new Center for Genomics and Data Science Research within the Institute’s Intramural Research Program.
… scientific leadership and shape direction of computational genomics in institute’s Intramural Research Program. … Adam Phillippy, Ph.D. as the founding director of the new Center for Genomics and Data Science Research within the Institute’s … NHGRI selects Adam Phillippy as first director of new Center for Genomics and Data Science Research …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… In a new analysis, a working group of the Clinical Sequencing Exploratory Research (CSER) Consortium … an ethical framework to guide pediatricians in pursuing clinical sequencing studies, interpreting results, and, … program, established in 2010 to speed the integration of genomics into clinical medicine, is funded by the National …