Recently, Fumihiko Urano, MD, PhD joined “It Happened to Me” podcast hosts Cathy Gildenhorn and Beth Glassman to discuss Wolfram syndrome and his ongoing research. Dr. Urano is the director of the Wolfram Syndrome International Registry & Clinical Study and the doctor of Cathy, who has a variant of the disease. Wolfram syndrome is an […]
Tag: optic nerve atrophy
Urano featured in PBS Wolfram syndrome documentary
In April, Fumihiko Urano, MD, PhD was featured in the documentary “Colorado Voices: Ellie White,” to raise awareness of the rare genetic disorder, Wolfram syndrome. The short documentary was published by Rocky Mountain PBS and tells the story of Colorado college student Ellie White, who lives with the disorder. Although the disorder is very rare […]
Millman and Urano publish research on patient iPSC-derived disease models
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, […]
Urano publishes research on the connection between loss of WFS1 function and ER stress-mediated inflammation
On March 25, Fumihiko Urano, MD, PhD and colleagues had their research titled “Loss of Function of WFS1 Causes ER Stress-Mediated Inflammation in Pancreatic Beta-Cells,” published in “Frontiers in Endocrinology.” Wolfram syndrome is “a rare genetic disorder characterized by juvenile-onset diabetes mellitus, optic nerve atrophy, hearing loss, diabetes insipidus, and progressive neurodegeneration.” The main cause […]
Urano publishes case report on Wolfram syndrome
On January 12, Fumihiko Urano MD, PhD and co-authors had their case report titled “Two Cases of Wolfram Syndrome Who Were Initially Diagnosed With Type 1 Diabetes” published in “AACE Clinical Case Reports.” The report describes two genetically confirmed cases of Wolfram syndrome, “a rare endoplasmic reticulum disorder characterized by insulin-dependent diabetes mellitus, optic nerve […]