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- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium2
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
Staff
Dr. Manfred Boehm is a an adjunct investigator for the Office of the Clinical Director at NHGRI.
… with biotechnology companies and has several active clinical protocols. … Kovacic JC, Gupta R, Lee AC, Ma M, Fang … Boehm is a an adjunct investigator for the Office of the Clinical Director at NHGRI. … Manfred Boehm, human vascular … Boehm is a an adjunct investigator for the Office of the Clinical Director at NHGRI. … Staff …
Research Funding
The $1,000 Genome Program was a coordinated effort to support the development of technologies to dramatically reduce the cost of DNA sequencing, a move aimed at broadening the applications of genomic information in medical research and health care.
… of genomic information in biomedical research and health care. Some of the successes of this program, which culminated … of genomic information in medical research and health care. … The $1,000 Genome Program was a coordinated effort to … of genomic information in medical research and health care. … Research Funding …
MINC
Establishing stakeholder partnerships paves the way for developing an action plan for your clinical setting.
… paves the way for developing an action plan for your clinical setting. … Teamwork can assure that others in your … Genetics & Genomics Education into Nursing Workforce Clinical Practice ). When staff see that leadership value … ):  Form a steering committee (individuals to consider)  Clinical Nurse Specialist/Educators  Shared decision making …
News Release
eMERGE Network will support multiple clinical sites and a coordinating center with $75 million over five years.
… Ganguly, Ph.D. … eMERGE Network will support multiple clinical sites and a coordinating center with $75 million … for diverse populations and to integrate their use in clinical care. The eMERGE Network is supported by the National Human …
Staff
Dr. David Adams is a senior clinician in the Office of the Clinical Director, NHGRI, and co-director of the Undiagnosed Diseases Program at NIH. He serves as deputy director of clinical genomics in both.
… Diseases Program (UDP) and the NHGRI Office of the Clinical Director. After completing his M.D. and Ph.D. (under … Program at its founding in 2008, became deputy director of clinical genomics in the UDP and the NHGRI Office of the Clinical Director in 2014, NHGRI associate investigator in …
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
… Wendy Introne, M.D. … Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics … Medical Center in Washington, D.C.; fellowship training in clinical genetics and clinical biochemical genetics from the NIH. Dr. Introne then …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… autotemcel and exagamglogene autotemcel ), and through clinical trials . While there are a number of clinical trials for sickle cell gene therapy, the journey can … you may leave the hospital and move to outpatient care. Talk with your healthcare team about potential …
Media Advisory
On Monday, June 24, 2019, Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) program investigators will present genomic research findings on implications for health and care of newborns during a public webinar session from 1:30 - 5:15 p.m Eastern.
… will review findings on implications for health and care of newborns at the final public session of the National … conditions not screened for in newborns? What additional clinical information could be learned from genomic sequencing relevant to the clinical care of newborns? What: NSIGHT researchers present …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
Staff
Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
… Amanda Ombrello, M.D. … Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of … physician, she leads the Inflammatory Disease Section’s clinical team overseeing the care of greater than 2000 patients with novel and established …