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 have an impression that patients who maintain normoglycemia may have milder symptoms and delayed progression. I was reading an article introduced in the Wall Street Journal very carefully. This study was led by David Holzman, MD, a renowned Alzheimer’s disease scientist. His team’s study strongly suggests that high sugar levels in the brain accelerate amyloid deposition in the brain, which increases the risk for Alzheimer’s disease. Based on their study, neuronal functions and activities are altered by high sugar levels. We should look into this in our animal models of Wolfram syndrome.

Dr. Holzman’s study might explain the link between Type 2 diabetes and Alzheimer’s disease. Please note that Wolfram syndrome 1 gene variations are associated with the risk of Type 2 diabetes, the most prevalent form of diabetes.

Thank you for reading this blog. I am thinking of one of our patients and sincerely hope that her condition gets better. We really need a treatment for this devastating disorder.

Take care,

Fumi Urano

Various kinds of sugar in wooden bowls

Various kinds of sugar in wooden bowls

Living With Wolfram Syndrome – Adam Zwan


wolfram syndrome independenceI recently moved out of my parents’ home to live on my own in an apartment all in an effort to gain some independence and self-sufficiency. It has been a start to the next chapter in my life with both pros and cons. It feels good to depend on myself to fulfill everyday tasks but it will take some time for my family to relax and feel confident that I can fend for myself.

The whole scenario was made possible after acquiring the Dexcom continuous glucose monitoring system with Share. This device accurately monitors my glucose levels and through Bluetooth communicates with five chosen followers who can also see what my glucose levels are. For the first time in my life other people can see part of what my body is experiencing. As some may have guessed, when my glucose level is below 150 mg/dL all my following family members believe that my glucose is plummeting and I need assistance. The drama has settled somewhat and they now see that an assistant is not needed to feed me orange juice and peanut butter but I am fully capable of serving myself.

Next in line is the cell phone chaos. When my glucose falls a little bit I receive phone calls from three or four of my followers, regardless of the time of day. If I do not have my phone by my side, I am in the shower, using the restroom, or in the gym and someone is trying to call me but I am unable to talk it is all perceived that I am in trouble. Thus, a family member is dispatched to my apartment or 911 is called and then canceled when I become available. I know I should just be thankful that I have a family who cares for me as much as I do but it make everyday living a bit difficult. Although, the yo-yo effect my glucose readings go through is mostly my fault. It seems the harder I try to control my glucose levels the harder it becomes. The exercise I participate in six times a week, my Gastro Paresis, and my limited diet all play a part in my frequent glucose fluctuations.

Everyone has a story and everyone has something he or she struggles with, my struggle in life is health (Wolfram Syndrome). I remind myself everyday that challenges in life are a given but coping and pushing forward are choices. My prayers rest with the Snow Foundation to fund research and Dr. Urano in finding a treatment for Wolfram Syndrome.

Raise Awareness of Wolfram Syndrome in Asia together with Dr. Barrett

Dr. Barrett and I gave lectures on Wolfram syndrome at the Japan-Korea Diabetes Symposium in Japan this week. Our lectures were successful. I had a chance to speak with Japanese physicians who see patients with Wolfram syndrome. The president of Japanese Diabetes Association, Dr. Tanizawa, and the President of the American Diabetes Association, Dr. Dagogo-Jack, were there.

I felt fortunate that I had a chance to present my progress at the symposium. Our goal is to conduct international clinical trials.

Thank you for your support. Thank you, Thank you, Thank you.

Take care,

Fumi Urano


Wolfram Night at Busch Stadium

To purchase a sponsorship or on-field experience, call Stephanie Snow Gebel at 636-448-4134


2nd Annual Snowman Classic Cocktail Competition

July 8, 2015 – 2nd Annual Snowman Classic
Cocktail Competition
6:00 p.m. – 11:00 p.m.
Omni Hotels and Resorts 
San Francisco California

Coach Fisher Softball Game 2015

Create a new drug based on an old drug

My current priority is to bring an existing drug that can control endoplasmic reticulum (ER) functions to our patients with Wolfram syndrome. However, this is not good enough to halt the progression and/or reverse symptoms. We need to design a new drug that is specifically designed for Wolfram syndrome. How can we achieve this?

We are taking a few different approaches. One of the approaches that I am taking is to extensively test the existing FDA-approved drug and monitor the effects of this drug on ER functions. We are also testing this drug in mouse models of Wolfram syndrome and cells from patients. Based on the data we have, we will test other new drugs that bind to the same molecule as this FDA-approved drug binds. The efficacy of these drugs will be carefully monitored in mouse models of Wolfram and cells from patients. Together with the Snow Foundation, we are raising funds to achieve this goal as quickly as possible.
Thank you for your continued support.

Kindest regards,

Fumi Urano



Get Fit Expo 2015

Get Fit Expo

Head to Gold’s Gym in St. Peters on May 16th from 11am – 3pm. There will be fitness activities, booths from vendors from the St. Louis area, healthy food and lots of fun – all for a good cause, The Snow Foundation.

Living With Wolfram Syndrome – Lauren Gibilisco

When I was 13 I saw a low vision specialist. He was trying different devices on me to get my vision a little better. Then he told me “you will never ever drive.” Well that about told me what my future was going to be like.

Me and my wonderful Mom.

Me and my wonderful Mom.

But I was going to prove the doctor wrong. My mom took me to a very large, empty parking lot. There I was able to satisfy my need for speed. I would go very fast and then slam on the brakes so the car would spin around. Then my mom would take me out into the country and I would drive fast on the gravel roads. One day she said “Lauren look out for that ditch,” and I said, “What ditch?” I was heading straight for it. My mom said that was enough. No more driving on the country roads or parking lots. My dad asked my mom if I would be a good driver if I could see. My mom said “No. The way she likes to drive fast she would get a whole lot of speeding tickets.” After our driving attempts I think that was when my mom started coloring her hair. Riding with me turned her hair gray.

This week on TV I saw something that may change my life. They are coming closer to having cars that drive themselves. I knew there were already cars out there that could parallel park. Could you imagine me trying to park between two cars? Well now they actually have cars that drive themselves. You just tell it where to go and it will drive you right there. They say it will be a lot safer driving than some of the people on the roads today. This would solve my problems. Right now I am reliant on my mom to drive me everywhere. She takes me shopping, out to eat or go to our many doctor appointments. Now I would be able to just jump in the car and say “take me there.” How cool would that be?

So technology has come a long way. They have come up with things that can really help people like me. They have talking watches, talking alarm clocks, talking scales, talking meters and many more. So there are great possibilities out there in technology that will make our life easier.

The only downfall I can see right now to getting a car that drives itself, is that I would probably visit the ice cream store a whole lot more.

A message from a mother

I receive many emails, letters, and phone calls every day from patients with Wolfram syndrome and unusual forms of diabetes and their families and doctors. Many of these are related to their medical conditions and potential treatments. Some of these are personal.

I received a message from a mother who had lost her daughter due to Wolfram syndrome last week. I was very sorry for her loss. I also appreciated that she shared her thoughts with me. I was encouraged by her message. I face multiple challenges, but a message like this one keeps me going.

I read every single email from you. I try to respond to all of these messages. Thank you again for your continued support. Tomorrow is a Mother’s day, my friends.

Take care,
Fumi Urano

Message in the bottle washed ashore on rocky beach.

Message in the bottle washed ashore on rocky beach.