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Funded Research
The Advancing Genomic Medicine Research (AGMR) program stimulates innovation and advance understanding of when, where and how best to implement the use of genomic information and technologies in clinical care.
… Vanderbilt University Medical Center Translating the Clinical Knowledge of Mendelian Diseases to Real-World EHR … University of California, San Francisco Toward DNA Sequencing as a Primary Newborn Screen for Treatable … … Historically, NHGRI has largely funded genomic medicine research through multi-disciplinary consortia. The AGMR …
Staff
Julie Sapp is a genetic counselor in the NHGRI in the Genomic Services Research Program (GSRP).
… Julie Sapp works as part of a multi-disciplinary research team where she draws upon her genetic counseling … of genomics into medical practice.  The diverse clinical research portfolio of the laboratory she works in … clinical demands of the expanding role of genome and exome sequencing and how to maximize the utility of genomic …
Educational Resources
Shotgun sequencing is a laboratory technique for determining the DNA sequence of an organism's genome.
… Shotgun Sequencing … Shotgun sequencing is a laboratory technique for determining the DNA … DNA fragments that are sequenced individually. A computer program looks for overlaps in the DNA sequences, using them …
Professional Development Programs
Provides exposure to the broader genomics community and experts in the field, with the opportunity to work on a genetics/genomics-related education projects under the mentorship of an ISCC-PEG member.
… College of Medicine, Genetic Counseling Graduate Program, Columbus, OH Richard L. Haspel, M.D., Ph.D. Beth … and Community Involvement Branch National Human Genome Research Institute   Swathi Balaji, BA Master of Science, … Director Cancer Genomics Education Program, Division of Clinical Cancer Genomics, City of Hope National Medical …
Research Funding
The IGNITE PTN supports a network of multi-site clinical groups involving diverse settings and populations to conduct two pragmatic clinical trials of genomic medicine interventions.
… develop methods for incorporating genomic information into clinical care and explore the methods for effective … of Chicago Mary Relling, PharmD, St. Jude Children’s Research Hospital Jordan Smoller, MD, ScD, Massachusetts … … Funding Opportunities … IGNITE II Resources … Program Staff … The IGNITE PTN supports a network of …
Event
On February 9-10, 2021, NHGRI will host it's 13th Genomic Medicine Meeting - Genomic Medicine XIII: Developing a Clinical Genomic Informatics Research Agenda.
… D. Green, M.D., Ph.D. Session 1: Making the case for a clinical genomic informatics research strategy Co-Moderators: Rex L. Chisholm, Ph.D. … Development: Can Implementation of Genetic Information in Clinical Informatics Decision Making Be Different? Presenter: …
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.
… Further understanding of this risk is a main focus of research of our team. … Ongoing, currently recruiting: … 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. …
The Genomics Landscape
In the July 2019 edition of The Genomics Landscape, NHGRI Director Eric Green reflects on the milestones of the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) Program as it reaches completion.
… of Child Health and Human Development (NICHD), the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) … of genome sequencing as a newborn screening tool, but more research in this area was needed. Thus, the NSIGHT program … methods? Would genome sequencing provide insights about clinical conditions not currently screened for in newborns? …
Research at NHGRI
A list of scientific and clinical research investigators at NHGRI.
… Cores … Adjunct Investigators … Scientist Emeriti … Research Investigators … A list of scientific and clinical research investigators at the National Human Genome Research Institute. … A list of scientific and clinical research investigators at NHGRI. … Research at NHGRI …
Research at NHGRI
The Immersive Simulation Program (ISP) provides expertise, tools, and support for the integration of emerging technology-based methods into health and medical research.
…   … Research Study: Evaluation of food choice and craving in … experimental medicine studies Lorenzo Leggio, M.D., Ph.D.  Clinical Psychoneuroendocrinology and Neuropsychopharmacology … technology interventions. … The Immersive Simulation Program (ISP) provides expertise, tools, and support for the …