The study, which began enrolling participants in May 2021, uses whole genome and RNA sequence analysis to identify how variations in patients’ DNA influence the range and severity of PWS symptoms and response to treatments. Aiding patient cohorts and individual patients with rare, undiagnosed, or misdiagnosed disease is the primary focus of our expert team. We’re honored that FPWR chose our team for this study.

As part of the initiative, FPWR will return pathogenic variants in genes on the American College of Medical Genetics and Genomics Secondary Findings list (ACMG SF v3.0) to participants and has enlisted health technology company My Gene Counsel to help return these results in a safe and responsible way.

Dr. Worthey will present work on molecular diagnostics in ME/CFS and will Co-chair the session on genetic variation.

Lobo J, Canete-Portillo S, Pena MDCR, McKenney JK, Aron M, Massicano F, Wilk BM, Gajapathy M, Brown DM, Baydar DE, Matoso A, Rioux-Leclerq N, Pan CC, Tretiakova MS, Trpkov K, Williamson SR, Rais-Bahrami S, Mackinnon AC, Harada S, Worthey EA, Magi-Galluzzi C.

Ten JGCTs from nine institutions underwent immunohistochemistry and whole exome sequencing. Our findings reveal significant morphologic heterogeneity, with JGCTs mimicking various kidney tumor entities. Despite concerning histologic features in three cases, patient outcomes were unremarkable, indicating that morphology alone cannot predict clinical behavior. We identified gain-of-function variants in RAS GTPases without additional recurrent genomic alterations. This represents the largest JGCT series characterized by whole exome sequencing, underscoring the potential role of the MAPK–RAS pathway.