I 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.
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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
July 8, 2015 – 2nd Annual Snowman Classic
Cocktail Competition
6:00 p.m. – 11:00 p.m.
Omni Hotels and Resorts
San Francisco California
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
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.
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.
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.
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.
I have some good news to share with you. We have just joined the Global Rare Disease Registry Program of the National Institutes of Health (NIH)/National Center for Advancing Translational Sciences (NCATS). Dr. Austin, Director of NCATS, and Dr. McInnes, Director of the Office of Rare Disease Research, helped me to make this happen. Dr. Yaffa Rubinstein who is leading this program is a wonderful person. I will work with Dr. Rubinstein to make this program successful. If you know anyone who has an abnormal form of type 1 diabetes, please ask him/her to contact me. http://wolframsyndrome.dom.wustl.edu/
I started our Wolfram syndrome International Registry with late Dr. Alan Permutt in 2009 when I was a faculty member at the University of Massachusetts Medical School. I presented my idea at the executive committee meeting of the diabetes center. Dr. David Harlan and other committee members offered help and the registry was established at Washington University. It was 6 years ago, and I did not expect that I would take over the registry then.
The registry led to the creation of the research clinic. I hope we can expand our clinic and create the consultation clinic. I hope we can create the Wolfram clinics all over the world. The Snow Foundation and our medical center have been supportive. I will keep on moving forward. The clinics help patients. To save patients, we need novel treatments. I will keep on moving forward.
I feel so grateful today. To achieve a cure for Wolfram is challenging. We need to recruit the smartest investigators and raise funds to make this happen.
Looking forward with fingers crossed,
Fumi Urano, MD, PhD
My visit to NIH, NCATS, with Stephanie Snow Gebel, Chairman of the Board of the Snow Foundation, was quite successful. We have had multiple discussions in the past two weeks and agreed to develop novel chemical compounds (i.e., drugs) for Wolfram syndrome. We will target the endoplasmic reticulum. This will be a three-way collaboration with NCATS, Snow Foundation, and my Wolfram research team at Washington University. We are very excited by this because NCATS has a strong drug development team. They said that their mission is to develop novel treatments for rare and neglected diseases. I appreciate this opportunity, and grateful for all the people who made this possible, including Dr. Francis Collins, NIH Director, and Dr. Christopher Austin, NCATS Director. The drug development team at NCAST is so strong. I look forward to working with Dr. Ajit Jadhav, Dr. David Maloney, and Dr. Anton Simeonov. This is wonderful news to the Wolfram syndrome community. Thank you, Thank you, Thank you.
With gratitude,
Fumi Urano
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