Urano publishes research on elevated plasma neurofilament light chain levels in patients with Wolfram Syndrome 

Fumihuko Urano, MD, PhD

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 […]

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

Fumihuko Urano, MD, PhD

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 […]