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 […]
In January, Fumihiko Urano, MD, PhD and collaborator, Shuntaro Morikawa had their research review titled “The Role of ER Stress in Diabetes: Exploring Pathological Mechanisms Using Wolfram Syndrome,” published in the “International Journal of Molecular Sciences.” Endoplasmic reticulum (ER) is an important cytosolic organelle that contributes to the folding and processing of new secretory proteins, […]
The Snow Foundation, the Ellie White Foundation, and the Unravel Wolfram Syndrome have donated funds to the research lab of Fumihiko Urano, MD, PhD. The research team will use the funds to test the efficacy of a Sigma 1 receptor agonist, pridopidine, developed by Prilenia in pre-clinical models of Wolfram syndrome. Successful completion of this […]
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, […]
On April 12, Fumihiko Urano, MD, PhD and colleagues had their research titled, “Plasma Neurofilament Light Chain Levels Are Elevated in Children and Young Adults With Wolfram Syndrome,” published in “Frontiers in Neuroscience.” “Wolfram syndrome is a rare disease caused by pathogenic variants in the WFS1 gene with progressive neurodegeneration. As an easily accessible biomarker […]
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 […]
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 […]