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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program3
- Human Genome Reference Program (HGRP)1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- 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
Diversity Center
The University of Texas Rio Grande Valley (UTRGV) has established a Diversity Center for Genome Research that will build UTRGV’s genomics research capacity by 1) expanding genomic research capabilities and discoveries in two innovative research projects; and 2) enhancing the size and quality of the available genomics workforce.
… Rio Grande Valley (UTRGV) has established a Diversity Center for Genome Research that will build UTRGV’s genomics … will provide the administrative support required for the center to enhance genomics research capacity and the genomics … regarding the approaches and activities of the center, the AC will oversee a continuous quality improvement …
The Genomics Landscape
In the October 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes James Thomas as the new director for NIH Intramural Sequencing Center (NISC).
… testing methods.  This research was funded by the NIH with a grant ( PA-20-185 ) to Melissa Gymrek, Ph.D., who … , as the new director of the NIH Intramural Sequencing Center (NISC) . NISC provides high-throughput DNA sequencing … than 100 NIH research projects, involving both basic and clinical research. He has also most recently served as the …
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.
… Study was launched by a team of NHGRI investigators at the NIH Clinical Center in early 2019. For more information, see Protocol …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… history study at the National Institutes of Health (NIH) that  aims to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. … Liaison Office National Institues of Health Clinical Center Phone (Toll Free): 800-411-1222 TTY: (Toll-Free) …
Staff
Dr. Gerard Bouffard directs the Bioinformatics Group at the NIH Intramural Sequencing Center (NISC).
… of the Human Genome Project. In 1997, he co-founded the NIH Intramural Sequencing Center (NISC) as director of the Bioinformatics Group, where … Projects … Gerard Bouffard, Ph.D. … Gerard Bouffard, NIH Intramural Sequencing Center (NISC), bioinformatics, …
News Release
NHGRI has selected James Thomas, Ph.D., as the new director of the NIH Intramural Sequencing Center (NISC), to will oversee the importation and use of DNA sequencing technologies, protocols and analyses, ensuring that NIH investigators have access to cutting-edge DNA sequencing methods and specialized genomics protocols to meet their research needs.Â
… Thomas to lead intramural center’s efforts in driving innovation in genomics research. … (NHGRI), part of the National Institutes of Health (NIH), has selected James Thomas, Ph.D. , as the new director … spanning a wide range of fields, from basic science to clinical research. It always comes back to supporting the …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… The JHU/NIH Genetic Counseling Training Program trains students to … research in the field of genetic counseling and provides clinical rotations for students to learn directly about … students complete rotations at the NIH Clinical Research Center. These experiences are linked to investigations into …
Staff
Dr. James Thomas is the acting director for the NIH Intramural Sequencing Center (NISC).
… Dr. James Thomas is the director of the NIH Intramural Sequencing Center. He oversees the importation and use of DNA sequencing … technologies, protocols and analyses, ensuring that NIH investigators have access to cutting-edge DNA sequencing …
News Release
Healthcare professionals now have access to a range of educational and clinical genomics resources on the Genetics/Genomics Competency Center website
… now have access to a variety of educational and clinical genomics resources thanks to a new partnership … are available on the Genetics/Genomics Competency Center (G2C2) website, a free, online collection of more than … Society of Genetic Counselors , the American College of Clinical Pharmacy , and The Jackson Laboratory are the first …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia … years of age. Be able to travel to and be admitted to the NIH Clinical Center in Bethesda, Maryland for 4 to 5 days each year for 5 …