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A cure for Wolfram syndrome could lead to a cure for diabetes and blindness.

Monday, April 28, 2014

Support our Wolfram colleagues in France

We have Wolfram friends and colleagues all over the world. We are trying to support our Wolfram friends in France.


Wednesday, April 23, 2014

Why did I move to Washington University?

I met with Barclay and Stephanie Gebel and JT Snow in 2011, and decided to move to Washington University and take over late Dr. Permutt's Wolfram syndrome project. They have been helping my team to develop a safe and effective treatment for Wolfram. In addition, we have been doing our best to raise awareness of Wolfram syndrome, the ultimate form of juvenile diabetes.

Saturday, April 19, 2014

Patient-based therapeutics part 8 - New Drug Candidates

As I mentioned in my previous blogs, we have identified three FDA-approved drugs, one supplement, and new groups of drugs that can potentially delay the progression of Wolfram syndrome. We have been testing the efficacy of these drugs in cells from patients and two animal models of Wolfram syndrome. Preliminary data look good, and we have been working very hard to bring at least one drug to patients.

We have also identified a potential biomarker that would be useful for monitoring the efficacy of our new treatment. I would like to thank patients who donated blood samples to us. Recently, some families donated blood samples from patients' siblings, and these samples were really helpful to confirm our findings.

I have been trying to establish firm relationships with biotech companies and nonprofit organizations to bring these drugs to our patients through clinical trials. Our lawyers have been helping us a lot. I will keep on pushing the envelope with my wonderful team and colleagues.

Sunday, April 13, 2014

MANF, Wolfram, and Diabetes-Part 2

An important article on MANF has been just published by a group in Europe. The article shows that MANF is essential for survival of pancreatic beta cells.

What is MANF?  As I mentioned in my previous blog, we discovered that MANF (mesencephalic astrocyte-derived neurotrophic factor) was secreted from pancreatic beta cells and neurons when their endoplasmic reticulum calcium was depleted. We also claimed that MANF could be a promising biomarker and therapeutic target for Wolfram and type 1 diabetes.

Why is this article important for us? This article supports our theory that MANF is an important therapeutic target for Wolfram and diabetes! I was really encouraged by this article. Currently, we are focusing on the clinical applications of MANF in Wolfram syndrome, diabetes, and other endoplasmic reticulum-related disorders. I hope we can bring you good news soon!

Friday, April 11, 2014

An update on our efforts to develop treatment for Wolfram syndrome

Our progress on Wolfram syndrome has been featured at the website of the Washington University's Institute of Clinical and Translational Sciences. This article succinctly and correctly summarizes our progress. I have unwavering faith that our sincere efforts will lead to a cure for Wolfram syndrome.

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.

Presented our progress on Wolfram syndrome at the Keystone Symposium

I just presented our progress on Wolfram syndrome at the Keystone symposium. It was a great opportunity to raise awareness Wolfram syndrome. I could feel that many researchers and physicians became interested in the link between Wolfram syndrome and type 1 diabetes. I could make new connections!