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News Release
Researchers find weaker immune response to viral infections in children with mitochondrial disorders
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 …
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.
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 …
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, …
For Patients and Families
An adult has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
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 …
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 researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.