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 and terminal, Ellie shares her experience and how she doesn’t let it stop her from living life.
Wolfram syndrome commonly manifests itself in the form of diabetes mellitus, optic nerve atrophy, central diabetes insipidus, sensorineural deafness, urinary tract problems and progressive neurologic difficulties.
Ellie and her mother Beth, have made it their mission to fund research of rare genetic disorders, leading to the establishment of the Ellie White Foundation in 2010, when Ellie was first diagnosed with Wolfram syndrome. Since then, the foundation has raised and donated $500,000 to support clinical and translational studies aimed at finding treatments for Wolfram syndrome, including studies conducted at Washington University.
Throughout the documentary, Dr. Urano shares what led him to begin researching for a cure for Wolfram syndrome and the important need for this work. Including discussion of his approach using regenerative medicine to apply targeted treatment of Ellie White’s symptoms, in an effort to stop their progression. Dr. Urano is incredibly passionate about this work and those affected by the disorder, stating “Ellie is my friend, not my patient.”
The rarity of being affected by the disorder is one in every 500,000 individuals. Currently, there are no cures or treatments for it. Though, Dr. Urano is determined to identify potential therapeutic targets by unraveling the molecular, genetic and cellular mechanism behind the Wolfram syndrome phenotype.
Visit here, to learn more about Wolfram syndrome and Dr. Urano’s work.