The Gruber Genetics Prize is presented by The Gruber Foundation to a leading scientist, or up to three, in recognition of groundbreaking contributions to any realm of genetics research. Dr. Orkin’s remarkable body of work has not only revolutionized our understanding of how these illnesses occur but has also led to promising new gene-based therapies for thalassemia... Read More
Each month, the editors of The American Journal of Human Genetics interview an author of a recently published paper. This month we check in with Cristen Willer and Tanmoy Roychowdhury to discuss their paper, Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm. What prompted you to start working on this project? CW: The... Read More
Each month, the editors of The American Journal of Human Genetics interview an author of a recently published paper. This month we check in with Laïla El Khattabi and Alexander Hoischen to discuss their complementary papers Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping and Optical genome mapping enables constitutional... Read More
Loren Saulsberry, PhD, Human Genetics Scholar, is an Assistant Professor in Health Policy and Health Services Research in the Department of Public Health Sciences at The University of Chicago. Her research program aims to evaluate and guide the implementation of pharmacogenomics (PGx) into clinical practice in a manner that advances health equity within genomic medicine.... Read More
Each month, the editors of The American Journal of Human Genetics interview an author of a recently published paper. This month, we check in with Josh Motelow to discuss his paper, “Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals”. AJHG: What caused you to start working on this project? JM:... Read More