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News Release
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… M.D., assistant research physician in NHGRI’s Metabolism, Infection and Immunity Section and co-first … Peter McGuire, M.B.B.Ch. , NHGRI investigator, head of the Metabolism, Infection and Immunity Section and senior author …
The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… provide leadership on research into diseases that disrupt metabolism. Dr. Venditti has been at the NHGRI for nearly 20 …
Research Funding
Effort to accelerate understanding of the molecular basis of cancer using genome analysis technologies, including large-scale genome sequencing.
…   Kidney cancer progression linked to shifts in tumor metabolism  (2013)   Study establishes basis for genomic …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… in PCOS theca cells. Journal of Clinical Endocrinology and Metabolism , 90 (12): 6596-6602. 2005. [ PubMed ] Stewart DR, … regulatory activity. Journal of Clinical Endocrinology and Metabolism , 91 (10): 4112-4117. 2006. [ PubMed ] Stewart DR, … ovary syndrome. Journal of Clinical Endocrinology and Metabolism , 95(5): 2306-2315. 2010. [ PubMed ] Stewart DR, …
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.
… oculocutaneous albinism and disorders of free sialic acid metabolism. Dr. Adams conducted an albinism natural history …
News Release
The National Human Genome Research Institute (NHGRI) has announced plans to establish a new precision health research program within its Division of Intramural Research.
For Patients and Families
An adult has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
… Biology and Human Malformations; Inborn Errors of Metabolism; and Current Concepts in Clinical Molecular …
News Release
NIH-led study finds genetic markers that explain up to 12% of the differences between two people’s blood pressure.
… several specific genomic loci that may be relevant to iron metabolism and a type of cellular receptor known as … loci, several reside in genes that play a role in iron metabolism, confirming previous reports that high levels of …
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.