Is this symptom related or not related?

I receive phone calls and emails from patients and their physicians every single day. One of the most frequent questions I get concerns the relationship between some specific symptoms and Wolfram syndrome. For example, is iron deficiency anemia related to Wolfram syndrome? The answer is no. How about urinary tract infection? The answer is yes […]

Three drug targets. What is the difference?

We have identified three drug targets for Wolfram syndrome in the past two years. These are MANF, Calpain 2, and IRE1. What is the difference between these three molecules. Here is a short summary. MANF: Enhances survival and proliferation of remaining cells. Caplain 2: Activates cells death signal in Wolfram and Diabetes. So we need […]

Drug discovery efforts update

Our manuscript on the discovery of mechanisms of ER stress-mediated cell death has been just published in Science signaling. This study is part of our continued efforts to develop novel treatments for Wolfram syndrome. The method introduced in our study can be used to test the efficacy of new drugs. Our drug discovery efforts are moving forward. […]

The First Step for establishing the Endoplasmic Reticulum Disease Center

I have been trying to create the Endoplasmic Reticulum Disease Center to develop novel treatments for Wolfram syndrome and other diseases associated with ER stress/ER dysfunction. Some forms of early-onset diabetes are associated with ER stress. Some forms of hereditary hearing impairment are associated with Wolfram syndrome 1 gene mutations. Some forms of retinal degeneration are […]

Appreciate feedback from our patients

I always appreciate feedback from my patients. I always try to do my best and listen to what they say. As a physician, it is very important for me to know what their challenges are. I often learn something important from my patients. So please share your experiences with me. Your feedback may lead to a […]

Thank you Coach Fisher

Our fundraising event last week was successful. St. Louis Rams Head Coach Jeff Fisher hosted an annual fundraising event and supported five charities, including the Snow Foundation. http://thesnowfoundation.org/coach-fisher-softball-game-2015/ We have been supported by St. Louis Rams and St. Louis Cardinals. I appreciate their continued support. Kindly, Fumi Urano

A greek doctor

I had a chance to discuss a complicated genetic testing result of a Wolfram syndrome patient with a Greek doctor. I was impressed by his enthusiasm. He was compassionate and tried to figure out what’s really going on in his patient. We could finally figure out what the problem was. We will keep on working […]

A single drop of blood for testing

We would like to develop simple, accurate, and safe diagnostic tests. If we can diagnose diabetes, neurodegeneration, cancer and other conditions with a single drop of blood, this will reduce the burden of our patients. They don’t have to stay in the hospital for long hours. This is an area that clinical medicine is rapidly […]

ADA in Boston

I just came back from Boston. I attended the annual meeting of the American Diabetes Association and gave two lectures on Wolfram syndrome. I felt that I could raise awareness of the disease. I met with many doctors from all over the world who see patients with Wolfram syndrome. I have set up multiple collaboration […]

A moment of silence

One of our patients passed away Sunday night. I will think about her tonight. I will just think about all the interactions that I had with her and her family. They are wonderful people. I feel my own helplessness. I came here to find a treatment for Wolfram and have not accomplished it yet. I […]

High sugar levels in the brain and neurodegeneration

My top priorities are to: 1) repurpose a FDA-approved drug and 2) develop novel drugs for Wolfram syndrome. I am also looking into environmental factors, diets, and life-styles that can potentially delay the progression of Wolfram syndrome. One of the possibilities I am looking into is to keep our blood sugar steady (i.e., maintain normoglycemia). I […]

Run for Wolfram Syndrome 5K

My family attended the fundraising event for Wolfram syndrome, Run for Wolfram syndrome 5K, today in St. Louis. http://thesnowfoundation.org/run-wolfram-5k/ So many people joined this event and ran for Wolfram syndrome. The Snow-Gebel Family, the Bieser family, Dr. Naseer’s family, and Anne Harkin from the Snow Foundation were all there. I was so impressed by the support from […]