Inside AJHG

Inside AJHG: A Chat with Mitchell Machiela KS: What motivated you to start working on this project? MM: Our main motivation for this study was to better understand how germline genetic variation in the 6p25.1 Ewing sarcoma (EwS) susceptibility locus contributes to EwS risk. Specifically, based on evidence from a prior investigation of the 10q21.3... Read More

Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What prompted you to start working on this project?  RG: I needed to find some G6PD variants with a range of activities for an experiment I was planning. As I was reading the literature, I was finding reviews and following the trails back to the original... Read More

Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? PL: My background is the study of the causes and mechanisms of neurogenetic conditions. A part of this has been the identification of novel genetic mechanisms causing ataxia, a condition where individuals have impaired balance and coordination.... Read More

Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What prompted you to start working on this project?  SR: When discussing the potential clinical utility of polygenic risk scores, a typical question from the audience is, “Why bother testing your genetic risk profile when the role of genetic risk can simply be measured using a... Read More

Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? WW: This project is motivated by our long-term interest in understanding the molecular mechanisms of complex diseases using genetic data. In the past few years, we have witnessed many successes in gaining biological insights by combining molecular... Read More