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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. 
… 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 …
Investigación Clínica
El Programa de Enfermedades No Diagnosticadas de los NIH brinda respuestas a pacientes con afecciones misteriosas que durante mucho tiempo han eludido el diagnóstico.
… (UDP) de los Institutos Nacionales de Salud (NIH) es parte de la Red de Enfermedades No Diagnosticadas … Program brings hope to patients with perplexing conditions Clinical Center News 2020 May 11, 2020: Bill Gahl receives HHS award …
Research Funding
Funded in 2016 to harmonize, access, and analyze the data produced by the sequencing centers.
… University School of Medicine A cross-institutional center at  Icahn School of Medicine at Mount Sinai ,  … including publications, can be found on the Coordinating Center's website:  http://gspac.rutgers.edu/ . The GSPACs … Sequencing, Dna Sequence Analysis Tools, Bioinformatics, Clinical Informatics, Big Data, Data Science … Funded in 2016 …
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 …
Training, Diversity and Health Equity Office (TiDHE)
The Centers for Genome Research Consortium aims to support the development of innovative genomic research projects through infrastructure building and the formation of interdisciplinary research teams at institutions that have not recently received significant funding from NIH.
… that have not recently received significant funding from NIH and who have not participated in genomics research. These … capabilities of resource-limited institutions. … Meharry Center for Genome Research Principal Investigator: Anil … that have not recently received significant funding from NIH. … The Centers for Genome Research Consortium aims to …