On September 22, Jeffrey R. Millman, PhD and Fumihiko Urano, MD, PhD, along with colleagues, had their research titled, “Multidimensional analysis and therapeutic development using patient iPSC–derived disease models of Wolfram syndrome,” published in “JCI Insight.”
“Wolfram syndrome is a rare genetic disorder largely caused by pathogenic variants in the WFS1 gene and manifested by diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration.”
Genetic and clinical findings have shown that it is a spectrum disorder. Therefore, “a genotype-phenotype correlation analysis is needed for diagnosis and therapeutic development.”
The study focuses on a variant primarily found in the Ashkenazi Jewish population and evaluates how through analysis, “patient iPSC–derived disease models provide a valuable platform for further genotype-phenotype analysis and therapeutic development for Wolfram syndrome.”