Fumihiko uranos biography
Dr....
Wolfram syndrome is a rare autosomal recessive genetic disorder with clinical signs apparent in early childhood.
Fumihiko “Fumi” Urano, MD, Ph.D., is a Physician and Medical Researcher specializing in Wolfram syndrome, characterized by juvenile-onset diabetes.
This condition is characterized by juvenile-onset diabetes, optic nerve atrophy, deafness, diabetes insipidus and neurodegeneration, and it may result in death in middle adulthood.
Accumulating evidence in my laboratory strongly suggests that endoplasmic reticulum (ER) dysfunction is a critical pathogenic component of Wolfram syndrome.
However, a complete understanding of the pathways and biomarkers involved in the disease process is still lacking. As a result, despite the underlying importance of ER dysfunction in Wolfram syndrome, there are currently no therapies that target the ER.
The goal of our laboratory is to reveal the molecular mechanisms of Wolfram syndrome and develop patient-based therapeutics for this complex disorder using genetic information from each patient and patient-derived induced pluripotent stem cells (iPSCs).
Growing evidence indicates tha