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News Release
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… which ones are a good fit for the clinical setting," said Michael Inouye, Ph.D., director of the Cambridge Baker …
Research Funding
The Genomics of Gene Regulation project develops methods to construct predictive, accurate gene regulatory network models using genomic data.
… Response to corticosteroids, cultured human cell line Michael Snyder, Ph.D. Stanford University Genomics Of Gene …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… Gynecologic aspects of genetic and metabolic diseases Drew Michael, Ph.D. Molecular and biochemical diagnostics Debra …
News Release
NHGRI researchers found that a protein in the immune system is particularly adaptable to mutations.
… this protein really tolerates a lot of mutations,” said Michael Chambers, Ph.D., a postdoctoral fellow at NHGRI who …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… disorders/Propionic Acidemia, Chediak-Higashi syndrome and Smith-Lemli-Opitz syndrome. Dr. Merideth actively engages … Merideth MA , LB Gordon, S Clauss, V Sachdev, ACM Smith, MB Perry, CC Brewer, C Zalewski, HJ Kim, B Solomon, BP …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… Shea LK, Jiang X, Guzman MA, Chandler RJ, Ramakrishnan SM, Smith SN, Venditti CP, Vogler CA, Ory DS, Ley TJ, Sands MS. … Ferla R, Alliegro M, Dell'Anno M, Nusco E, Cullen JM, Smith SN, Wolfsberg TG, O'Donnell P, Wang P, Nguyen AD, …
Staff
Dr. Paul Meltzer is an adjunct investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… B, Gillis AJ, Cook MB, Wang Y, Waterfall JJ, Stevenson H, Smith WI Jr, Noyes N, Retnakumar P, Stoop JH, Oosterhuis JW, …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… in human developmental disorders HG011996 Hyejung Won Michael Love Karen Mohlke University of North Carolina at … single-cell multiomics HG012047 Danwei Huangfu Michael Beer Anna-Katerina Hadjantonakis Sloan Kettering … Data and Administrative Coordinating Center Awards J. Michael Cherry Mark Gerstein Benjamin Hitz Stanford …
News Release
NIH has awarded grants of more than $28 million aimed at deciphering the language of how and when genes are turned on and off.
… Stanford, California, $7.1 million Principal Investigator: Michael Snyder, Ph.D. Dr. Snyder and his team will study the …
The Genomics Landscape
In the December 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, looks back on Bettie Graham's 50 years of federal service and as a champion for diversity in the genomics workforce, as she retires at the end of 2023.
… to change the world.” “Bettie is a person of yes,” said Michael Boehnke, Ph.D. , a professor at the University of …