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News Release
The Genetics/Genomics Competency Center (G2C2) resource has been expanded to include a new collection of resources for physicians.
… John Daniels … The Genetics/Genomics Competency Center (G2C2) - www.g-2-c-2.org - is a … to bridge the gap," said Jean Jenkins, R.N., Ph.D., NHGRI clinical advisor, Genomic Healthcare Branch. "Genomic …
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 … some care as part of your participation. To receive clinical care, you should consult your regular physician. How … ] NIH Clinical Research Studies At the NIH Clinical Center in Bethesda, Maryland The NIH maintains an online …
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 …
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 …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Maryland. It was organized by the … the UDP. In return, patients provide UDP researchers the opportunity to gain new insights about genetic and …
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  Protocol … the fields of hematology and oncology because of the rare opportunity to monitor the genomic evolution of cancer from a …
Research Training
An opportunity for students to receive individualized research mentoring, learn about careers in genomics and have access to a network of early-career genome scientists.
… “The promise of genomics cannot be fully achieved without successfully … workforce of genome scientists in basic, behavioral, clinical and social science research.   iSPRinG … Summer Program for Research in Genomics (iSPRinG) … An opportunity for students to receive individualized research …
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. … The … Adam Phillippy, Ph.D. as the founding director of the new Center for Genomics and Data Science Research within the … and provide mentorship for researchers within the Center.  Since joining NHGRI in 2015, Dr. Phillippy has been …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… consent. … 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 …
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, … research and the latest advances in medical genetics, genomics and personalized medicine.  The conference will … Visit with NHGRI staff at Booth #827 in the convention center to learn more about our research, programs, career and …