Tag: genomics

UAB’s Center for Precision Animal Modeling Receives Continuing NIH Support

The UAB Center for Precision Animal Modeling (CPAM) has received renewed NIH funding (Grant No. 2U54OD030167-06) through 2030 to expand its efforts in modeling human genetic disease. This continuation supports the next phase of the Center’s work (CPAM2.0), enhancing its established framework for variant interpretation, disease modeling, and therapeutic discovery.

The Bioinformatics Section, led by Dr. Liz Worthey, will enhance CPAM’s computational framework through new applications of machine learning, generative AI, and cross-species analysis. This includes expanding Rosalution, which streamlines data integration, variant curation, and collaboration across CPAM teams. The renewed funding underscores CPAM’s role in translating genomic findings into actionable insights that accelerate diagnosis and treatment for rare diseases.

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.