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Patient-Based Therapeutics Part 2

Photo of Dr. Fumihiko Urano

Dr. Fumihiko Urano

Research Update from
Dr. Fumihiko Urano

Patient-Based Therapeutics Part 2

We are taking an unconventional approach to develop therapeutics for Wolfram syndrome. I would call it “patient-based therapeutics.” This implies a few things. One of these is the “mechanism-based treatment.” How can we achieve this component of “patient-based therapeutics” for Wolfram syndrome? Here are our current efforts.

1. Looking for FDA-approved drugs that can potentially halt progression of Wolfram syndrome (drug repurposing).
We looked for drugs that can protect cell death mediated by the leakage of calcium from the endoplasmic reticulum (ER) to the cytosol. We found four FDA approved drugs and one supplement so far. We are testing these drugs in Wolfram iPSC-derived neural progenitor cells and mouse models of Wolfram syndrome.

2. Looking for a new class of drugs that can protect cell death mediated by endoplasmic reticulum dysfunction.
We have developed a drug screening method to identify drugs that can protect cell death mediated by ER dysfunction. In collaboration with a non-profit organization, we are actively looking for a new class of drugs that can potentially halt the progression of Wolfram.

3. Testing if MANF (mesencephalic astrocyte-derived neurotrophic factor) can suppress the ER calcium leakage-mediated neuronal cell dysfunction in Wolfram iPSC-derived neural progenitor cells.

I will talk about more on MANF some other time. I thought that this was a good biomarker for Wolfram syndrome because expression of this molecule is increased by ER dysfunction. However, the increase of MANF might be an adaptive mechanism of our cells to cope with abnormal ER function.

Dr. Fumihiko Urano a renowned physician and scientist developing therapeutics and diagnostics for Wolfram syndrome and juvenile onset diabetes.  His areas of expertise include Wolfram syndrome, type 1 diabetes, Pediatric pathology and genetics and Molecular Endocrinology.  He is currently employed at the Washington University School of Medicine where he holds the Samuel E. Schechter Professor of Medicine, 2012 – present.

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We Say Goodbye to a Wolfram Trailblazer and Friend

Photo of Jon Wasson and Stephanie Snow Gebel

Jon Wasson and Stephanie Snow Gebel

Jon Wasson

Yesterday our dear friend Jon Wasson passed away after a lengthy battle with Cancer. Jon was instrumental in the discovery of the Wolfram gene (WFS1). Jon worked closely with the late Dr. Alan Permutt, both bringing Wolfram syndrome research to the forefront at Washington University School of Medicine (WUSM).

Jon played a major role in establishing the Wolfram clinics at WUSM bringing together families from around the world who are dealing with the disease. Jon’s kind and personal connection with the families with Wolfram Syndrome led to the success of the Wolfram Clinic and Registry. Jon was a major supporter of the Snow Foundation and a true friend to our family. He will be sorely missed.

“Jon was always kind and thoughtful, and dedicated to our research on Wolfram syndrome. Great loss for all of us.” – Fumihiko Urano, MD, PhD – Washington University School of Medicine

“I will miss Jon tremendously. He was straight-shooting, honest, insightful and very passionate about his work, repeatedly going the extra mile to help our Wolfram Syndrome families and to facilitate our research.” – Tamara Hershey, Ph.D. – Washington University School of Medicine

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Not Your Typical Holiday

World Rare Disease DayI love holidays.  All of them.  I even love those special days we’ve created, “Sweetest Day”, “Grandparents Day”, “Take Your Child To Work Day”.  But who knew I’d be so involved in something called “World Rare Disease Day” on February 28th.  Not exactly something that was on my radar a couple years ago.   But, here we are on this newly discovered “holiday” but what am I supposed to do?  Buy presents?  Decorate my house?

The main objective of Rare Disease Day is to raise awareness among the general public and decision-makers about rare diseases and their impact on patients’ lives.  I asked myself, am I doing this?  Am I doing the WRDD festivities?  And thankfully, my answer was yes.

So I ask you, will you join me in celebrating this newly discovered “holiday” by supporting our foundation?  You’d spend a few dollars on a card or flowers for boss’s day, so why not donate instead?  You might not get a raise, but you’re helping to change lives.

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Where Do I Begin?

Raquel and Stephanie Gebel

Raquel shortly after her diagnosis and me on the steps of the Wash U School of Medicine.

It was a little over 2 years ago when I embarked on this journey with Wolfram syndrome. Last October, I received a devastating blow, one that would change my life and others forever.  My youngest daughter, Raquel, was diagnosed with Wolfram Syndrome, a terminal form of diabetes.  She had been diagnosed with Type 1 diabetes just 9 months earlier.  As a mother, I decided that I was not going to stand by and watch the deterioration of my little girl. There was a lot of work to be done and I was going to do it.

For the last 11 years I have coasted along as a wife, mom and friend. I am blessed that I do not have to work, but I always felt something was lacking in my life, so much so that I frequently brought it up to my husband, Barclay.  When the Wolframs diagnosis occurred, I knew it was God telling me, “Here is your chance, go out and make a difference.”  I am blessed because I had a dad who had an unbelievable personality and who was a well-known athlete, having played for the LA Rams and later as the announcer for the St. Louis Rams. In addition to my dad, I have a brother with a heart of gold who is also well-known for his athletic accomplishments, but in baseball having played in the Major Leagues for over 13 years.  Thus, The Jack and JT Snow Fund was born.

This blog will be painfully therapeutic for me, but also helpful to others dealing with Wolfram syndrome and those who are wondering just what this disease is all about.  I’m not Patricia Cornwell or J.K. Rowling, so bear with me as I take you on the journey that I began back in October 2010.

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