We have joined the Global Rare Disease Registry Program of NIH/NCATS

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

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Drug development for Wolfram syndrome with NIH, NCATS

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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Living With Wolfram Syndrome – Lauren Gibilisco

A couple of weeks ago I was asked if one thing could be healed on me, what would it be? I thought about it for a while and decided it would be my hearing. I asked my mom what she thought and she answered blindness of course. She couldn’t believe I said my hearing.

Photo of Lauren Gibilisco

Lauren Gibilisco

My hearing went before my blindness. But with the hearing I was able to get hearing aids that definitely helped me hear. Life went on and I slowly lost my vision. It wasn’t something that went at once so I was able to adapt. My cane instructor worked with me to listen for sounds in order to cross streets and even know where I was. So vision was directly affected by hearing.

Last week, my one hearing aid quit working and the other one had the ear mold fall off. This happened both at the same time. Suddenly I almost couldn’t hear anything. My mom called up our hearing doctor and asked if we could drop off my hearing aid that day and have them glue it back together. We had a hearing appointment scheduled for the next week but I couldn’t wait that long. It was right before Easter when all our relatives were coming to our house. They of course said they would be happy to do it for me. This is out of town for us, so my mom and me went out to lunch and then did some shopping to waste time until they called to say it was fixed.

Now just think about it. Here I was, not able to see anything, and now couldn’t hardly hear anything. My mom had to yell in my ear for me to hear. All of the sudden my vision became much worse because I did not have my hearing to help guide me. The dark became darker.

The following week I went to my hearing appointment. My hearing had been getting really bad and my mom made the appointment because she was tired of having to scream all the time. The good news is that the doctor said my hearing had decreased but not that much. It was my hearing aids that were shot. I needed a new pair. He also was telling us about the improvements in hearing aids since I had my other pair. He said they made them moisture proof so when I sweat in the summer it won’t affect them. He said I would be able to hear much better for the advancements but would still have difficulty understanding what was being said. It’s like I can’t tell if you said “pink or sink”. This makes me take time to understand what you are saying because here I am thinking you are talking about something being pink and you instead are talking about the sink. This takes the brain a little longer to catch up.

Now even though he said the understanding would still be a problem, there would be an improvement. I was happy to hear this. I talk with kids all over the world and understanding their accents is sometimes very difficult. I hope this will help me so I will be better able to connect with the world.

Now my mother understood why I would want my hearing fixed soon. I can get around pretty good with my cane and with my hearing I can do almost anything. After thinking it all through my mom had thought without being able to hear and see I would only have a few options. Would a cochlear implant help me or would we have to start learning sign language in the hand like Helen Keller did. My mom admitted it was more stressful to always having to repeat things than picking up something I bumped into and broke. Life is always amusing.

Tomorrow is already a day late

My major focus is to develop treatments and provide a cure for Wolfram syndrome. Because Wolfram is a prototype of ER stress-related disease, I am running projects related to other ER stress-related diseases, Type 1 diabetes and ALS, on the side because I can learn new things and come up with new ideas. I often watch the website created by Mr. Hiro Fujita who is a patient with ALS. I agree with him. We should to everything we can do to speed up the process for developing treatments for rare diseases including ALS and Wolfram syndrome. Tomorrow is already a day late. Instead of worrying about who is going to take responsibilities or intellectual property rights, we should develop novel treatments and bring these to our patients as soon as possible.

http://end-als.com/#movie

Thank you for your continued support.

Take care,

Fumi Urano

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Renovation of an old drug

One of the exciting things that were offered during our visit to NIH, NCATS, was to renovate old drugs and make them more specific for Wolfram syndrome and other endoplasmic reticulum-related diseases. We have identified three FDA-approved drugs that can potentially delay the progression of Wolfram syndrome. These drugs were originally designed and indicated for other disorders. We are certainly interested in using one of these drugs for our interventional study after we determine the dose of the drug using our animal models and cell models of Wolfram syndrome. In parallel, they recommend that we modify the structures of these old drugs and make them more suitable for Wolfram syndrome. Their medicinal chemists have the ability to do this. This is a “renovation” of an old drug. I look forward to this exciting collaboration. Thank you, Thank you, Thank you.

Thank you for your continued support. I am quite hopeful.

Kindest regards,

Fumi Urano

renovation in progress

Living With Wolfram Syndrome – Adam Zwan

Worst So Far – My Hypoglycemic Seizure

Moving out on my own in April 2015 is a chance for me to increase my confidence and begin experiencing more of life’s treasures. On the other hand, there are some health risks and family worries due to my taking a chance on my own. I tell myself to be thankful to have such a close-knit family that loves and cares as much as they do.

Diabetes is the cause of most worries and I make the best of it by saying “that’s just the hand I was dealt in life.” On April 2nd this year I moved into my new one bedroom apartment where everything I will need is in walking distance. In order to relieve my father having to take me to the gym every morning as early as 5 a.m. I moved into an apartment located only one mile down the street from the gym. Along with the gym there is a Wal-Mart, doctor offices, and restaurants just beyond the parking lot. Obviously my mission was accomplished moving within walking distance of necessities. However, a health glitch occurred due to my slight change in routine upon the move in day.

Image of hypoglycemic seizureMy everyday routine, regarding exercise and nutrition, was altered resulting in a hypoglycemic seizure. My glucose dropped as I was home alone and the orange juice I drank did not do the trick. I ended up getting exhausted and after taking a shower I decided to lie down for 20 minutes. Two hours later I woke up to a room filled with family members and EMT. I was lying in bed in a puddle of sweat with an IV in my arm. I was told that I survived one of the worst seizures I have ever had and that due to the seizure I got dehydrated.

Further, the seizure was explained in detail informing me that this was the first time my heart rate plummeted and I lost consciousness. I was given a glucagon shot that caused my liver to release glycogen and increase my glucose level. An ambulance ride was offered and I declined because all was fine after gaining my bearings. Knowing what happened and why made the whole occurrence a learning experience. I now know how important it is for me to follow routine and stay regimented.

Our visit to NIH was fruitful

Stephanie Snow Gebel, the founder of the Snow Foundation, and I visited NIH, National Center for Advancing Translational Sciences, yesterday. Our visit to NIH was quite fruitful. I learned a lot about the NIH’s efforts on developing novel treatments for rare diseases. I met with Dr. Christopher Austin’s team and discussed our potential collaboration on Wolfram syndrome and related disorders. We will further discuss our collaboration on April 17th. They have a very strong drug development team. If we can develop a new drug targeting the endoplasmic reticulum specifically designed for Wolfram, this may lead to a novel treatment for diabetes. I am excited by this opportunity. Please stay tuned!

Thank you for your continued support and encouragement.

Take care,

Fumi Urano

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