Search Results
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 …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… The Centers for Common Disease Genomics (CCDG) are a collaborative large-scale genome … including publications, can be found on the Coordinating Center managed website: http://ccdg.rutgers.edu/ . … … Content … Program Staff … Centers for Common Disease Genomics … Collaborative large-scale genome sequencing effort …
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 … NHGRI will hold a … 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.
… 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 …
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 … 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 …
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 …