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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 …
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, …
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 …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… the genetic information and leading to patient harm,” says Michael Gollob, M.D., senior author of the paper and …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… M.D., Ph.D., NHGRI deputy clinical director; and Chad Smith, father of a patient who is part of the Undiagnosed …