Launched in May 2021, this study applies whole genome and RNA sequencing to understand how genetic variation influences the severity of Prader-Willi Syndrome (PWS) symptoms and treatment response. Our team is dedicated to supporting individuals with rare, undiagnosed, or misdiagnosed conditions. We are proud to lead this work in partnership with the Foundation for Prader-Willi Research (FPWR).

Participants will receive findings on pathogenic variants from the ACMG Secondary Findings v3.0 gene list. FPWR has partnered with My Gene Counsel to ensure these results are delivered in a medically responsible and accessible way.

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

Ten juxtaglomerular cell tumors (JGCTs) from nine institutions were analyzed using immunohistochemistry and whole exome sequencing. The study highlights significant morphologic variability, with tumors mimicking other renal neoplasms. Although three tumors exhibited concerning histologic features, patient outcomes were favorable, suggesting that morphology alone is not predictive of clinical behavior.

Genomic analysis identified activating variants in RAS GTPases without other recurrent alterations. These findings implicate the MAPK–RAS pathway in JGCT development and represent the largest JGCT series characterized by whole exome sequencing to date.

Read the full publication in Modern Pathology: Molecular Characterization of Juxtaglomerular Cell Tumors: Evidence of Alterations in MAPK-RAS Pathway.