Fumihiko Urano: Wolfram Syndrome Study
In 2011 Fumihiko Urano, MD, PhD, Samuel E. Schechter Professor of Medicine, received a 2 year pilot grant from the ICTS for the study begun by his late colleague M. Alan Permutt, “Translating Mechanisms for a Genetic Neurodegenerative Disease to New Therapies”. This project established a yearly clinic for children with Wolfram syndrome (WS), a rare childhood disease characterized by insulin dependent diabetes mellitus and neurological dysfunctions in an effort to uncover biomarkers for monitoring disease progression. In exciting reports/updates provided just one-year post award, the multidisciplinary team including Bess Marshall and Tamara Hershey and supported by the Human Imaging Unit and Pediatric Clinical Research Unit has:
- Identified an enzyme implicated in ER stress as a molecular target for WS treatment.
- Uncovered FDA-Approved drugs that block activation this enzyme and cell death by exploiting banked iPSCs (in the Core facility) derived from patient skin cells. These pluripotent stem cells will help in the identification of therapeutics to treat WS and may eventually be used to replace damaged tissues resulting from this monogenic disorder.
- Working with the Office of Technology Management, several biotech and pharmaceutical companies have been identified with overlapping interests in advancing drugs of potential benefit to patients with WS. The ultimate goal would be to establish clinical trials in the US with extensions in Japan and Europe.
These translational discoveries utilized an important pediatric patient population, combining multiple assessment methods and resources drawn from a dedicated basic science and clinical community working collaboratively to understand the molecular mechanism and identify actionable targets for the treatment of Wolfram Syndrome.