Author: lworthey

CGDS granted continuing funding to extend our Patient-Centered WGS-Driven Pilot Study in Prader-Willi Syndrome

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.

CGDS Team Publishes Largest Genomic Study to Date That Reveals RAS Pathway Involvement in JGCTs

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.

CGDS Publishes Study on Genetic Factors Influencing Vitamin D Status in Cystic Fibrosis

CGDS researchers and collaborators have published new findings on the genetic basis of vitamin D variability in adults with cystic fibrosis (CF). The study analyzed 25-hydroxyvitamin D (25OHD) levels alongside whole genome sequencing data from 80 adults to investigate why some patients remain vitamin D insufficient despite consistent supplementation.

Results showed that 30% of participants had 25OHD concentrations below the 30 ng/mL threshold, despite normal vitamin E levels. Polygenic risk scores (PRS) were significantly correlated with 25OHD status, indicating that common genetic variants contribute to differences in response to vitamin D therapy. These findings align with prior results in children and support a more personalized approach to supplementation in CF care.

Read the full study in Journal of Cystic Fibrosis: Vitamin D status and variable responses to supplements depend in part on genetic factors in adults with cystic fibrosis.

CGDS Publishes on Caregiver Perspectives in Prader-Willi Syndrome Pharmacogenomics

Researchers at CGDS, in collaboration with FPWR, have published a study exploring caregiver interest in pharmacogenomic (PGx) testing for children with Prader-Willi syndrome (PWS). The study surveyed caregivers before returning PGx results, aiming to understand their expectations and planned use of this information in clinical care.

Among the 48 caregivers surveyed, 93.8% expressed strong interest in their child’s PGx results. Nearly all respondents (97.9%) intended to share the findings with medical providers, yet fewer than half (47.9%) felt confident that those providers would use the results. The findings highlight the enthusiasm among caregivers and the perceived gap in provider readiness to act on PGx data, signaling a need for increased education and support around clinical implementation.

Read the full study in Pharmacogenomics: Pharmacogenomics for Prader-Willi syndrome: caregiver interest and planned utilization.