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News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… Read the study Elma Aflaki, Daniel K. Borger, Nima Moaven, Barbara K. Stubblefield, Steven A. Rogers, Samarjit Patnaik, …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… the 25 percent diagnosis rate for unknown diseases," said Thomas Markello, M.D., Ph.D., the study's corresponding …
Staff
Dr. Susan Persky is an associate investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.
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… social psychology from the University of California, Santa Barbara, where she studied at the Research Center for Virtual … and Behavior at the University of California, Santa Barbara. There, she honed her expertise in examining virtual …
Staff
Dr. Mullikin was the former director of the NIH Intramural Sequencing Center (NISC).
… CS, Lin S, Abecasis GR, Guan W, Li Y, Munro HM, Qin ZS, Thomas DJ, McVean G, Auton A, Bottolo L, Cardin N, … Riebow N, Schandler K, Schmidt B, Sison C, Stantripop M, Thomas J, Thomas P, Vemulapalli M, Young A, Mullikin JC, Gnanakaran S, …
Media Availability
The Cancer Genome Atlas identified molecular subtypes to help clinicians determine which tumors are more aggressive and which will respond to treatment.
… characteristics of the cancer. The researchers, led by Thomas Giordano, M.D., Ph.D., University of Michigan, Ann …
News Release
Celebrating 30 years of genomics that has transformed our understanding of life and improved health.
… In 1986, geneticist Thomas Roderick, Ph.D., sat with about 10 colleagues in a bar …
Staff
Dr. Clesson Turner is the director of the Reverse Phenotyping Core and a staff clinician in the Center for Precision Health Research of the National Human Genome Research Institute.
… K, Steinberg SM, Wei JS, Guha U, Turner CE , Khan J, Thomas A. Whole-exome sequencing reveals germline-mutated …
Event
On October 25-29, 2022, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.
… myopathy in a large family Board No. PB1743 Thomas Cassini Convention Center, South Exhibit Hall 3:00 … for rare candidate variant analysis Board No. PB2541 Barbara Pusey Convention Center, South Exhibit Hall 3:00 p.m. …
News Release
NIH will award $38.5 million over five years to the Developmental Genotype-Tissue Expression (dGTEx) project, which aims to build a widely available resource of human developmental gene expression in a multitude of tissues for use in basic and clinical research.
… branch at NICHD. The newly awarded study sites include: Thomas Bell, Ph.D., National Disease Research Interchange, …
News Release
NHGRI hosted two Pathway to Independance awardees and supported 18 additional investigators at institutions nationwide.
… of Reported Disease Variants in Asymptomatic Individuals Barbara Elizabeth Engelhardt, Ph.D., Duke University, Durham, …