Moving to the Washington University Medical Center website

Dear Friends,

We are moving to the Washington University Medical Center website. We will make the most informative and helpful web for our patients, families, physicians, researchers, and general public. We will closely work with patient organizations.

Information about Wolfram syndrome
http://wolframsyndrome.dom.wustl.edu/
My blog
http://wolframsyndrome.dom.wustl.edu/dr-uranos-blog/

Please feel free to contact me if you have any questions.
urano@dom.wustl.edu
314-362-8683

Fumi Urano
Kindest regards,

Wolfram syndrome website at Washington University Medical Center

We have created an website specifically designed for Wolfram syndrome patients, families, physicians, and researchers. Our aim is to create the most useful and informative site and platform for patients with Wolfram syndrome. We plan to keep on adding information to this site.
http://wolframsyndrome.dom.wustl.edu/

Most of my previous blogs have been transferred to this site. I plan to move my blog there.
http://wolframsyndrome.dom.wustl.edu/dr-uranos-blog/

The site is managed by a wonderful information technology specialist. I cannot thank you enough for her efforts.

Kindly,
Fumi Urano

Insulin-producing cells and brain cells in Wolfram syndrome

In Wolfram syndrome, insulin-producing pancreatic beta cells and brain cells selectively degenerate. Other cells, such skin cells and immune cells, are healthy. Why are beta cells and brain cells so sensitive to the loss of function of Wolfram gene?

It has been recently suggested that beta cells and brain cells have many common features. My hunch is that brain cells and brain-like cells, including beta cells, are sensitive to dysregulated calcium homeostasis. So if we can modulate cellular calcium homeostasis using small molecules, we can potentially delay the progression of Wolfram syndrome. We have preclinical data supporting this model. We can disclose the information soon.

Thank you for reading this. I hope you have a wonderful day.

Kindly,
Fumi Urano
http://wolframsyndrome.dom.wustl.edu/

Dr. Banting

Today is our Diabetes Research Center's Diabetes Day. We will present our progress on the development of therapeutics and diagnostics for Wolfram syndrome.

The father of diabetes research is Dr. Banting who discovered insulin. His research led to the insulin therapy for patients with diabetes. Here is an interesting blog about him.
http://diabetesdad.org/2014/11/12/this-man-saved-your-your-childs-life-what-do-you-know-about-him/

I hope you have a wonderful day.

Kindest regards,
Fumi Urano
http://wolframsyndrome.dom.wustl.edu/

Brain Functions and Medication

Patients with Wolfram syndrome face multiple challenges in addition to diabetes. That's why I always feel that Wolfram is the most difficult form of diabetes. Mood swings, anxiety, and depression are commonly seen. Although the molecular mechanisms underlying these symptoms are not clear, we assume that these are related to the dysregulation of neurotransmitter secretion. Endoplasmic reticulum is involved in the maturation and secretion of secreted factors in the brain cells, and Wolfram protein is localized to the endoplasmic reticulum and secretory granules.

Because Wolfram is diabetes with brain cell dysfunction, our candidate drugs should pass the blood-brain barrier. Many drugs cannot reach the brain because blood vessels in the brain have a special structure called the blood-brain barrier. I always make sure that our candidate drugs pass the blood-brain barrier and reach brain cells. 

Thank you for reading this. I would like to send kind thoughts toward you. I would like you to stay optimistic. Thank you again.

Take care,

Fumi Urano

Please help us spread the word

There is an urgent need to develop therapeutics for Wolfram syndrome. We need to swiftly test the safety of each new treatment and bring it to patients. I hope you share the video and help us spread the word.

https://www.facebook.com/video.php?v=948926448455453

I am interested in donating my intellectual properties to patient organizations. A clinical trial for new treatment is controlled by a pharmaceutical company or an investigator who owns the intellectual property of the treatment/drug. If a patient organization owns it, they can control the clinical trial and potentially get some income out of it. They can use the money for developing new therapies or raising awareness.

Thank you for reading this. I always appreciate your continued encouragement and support. I read all the emails with gratitude. I cannot thank you enough.

Warmest regards,

Fumi Urano

http://wolframsyndrome.dom.wustl.edu/

Intervention and Platform

My team is pursuing multiple therapeutic modalities, including therapies using FDA-approved drugs (drug repurposing), combination therapies, new small molecules, and stem cell-based therapy combined with genome editing. I am also working hard to create platforms to bring these new therapies to patients. Both should happen simultaneously.

Thank you for reading this blog. I feel something wonderful is going to happen to us today.

Warmest regards,
Fumi Urano

Combination therapy

My team's new initiative is to develop a "combination therapy" for Wolfram and Type 1 diabetes. What is a "combination therapy"? It is a therapy that uses more than one medication or modality. The advantage for this is that we can target different enzymes involved in the disease progression, which may increase our chance of stopping the progression. We may be able to decrease the dose of each drug, which reduces the risk of side effects. The challenge is that we don't know which combination is the best. It is almost like solving the puzzle, but we will keep on trying.

Thank you for reading this. I hope you have a wonderful Sunday.

Warmest regards,

Fumi Urano

Other symptoms and an urgent need

Wolfram syndrome is characterized by juvenile-onset diabetes and optic nerve atrophy. Many patients experience diabetes insipidus, hearing impairment, and ataxia due to neurodegeneration. You can find these symptoms in a text book or review articles.

There are other common symptoms that have not been extensively studied. Here is the list of symptoms based on our database. More than 10% of patients experience the following. You will find how difficult this disorder is. There is an urgent need to develop therapeutics for Wolfram syndrome. We need drugs and stem cell-based therapy in combination with gene therapy. 

Neurogenic Bladder: 25.00%
Anxiety: 25.00%
Headaches: 25.00%
Problems Regulating Temperature: 22.50%
Bladder Incontinence: 17.50%
Apnea: 15.00%
Dizziness When Standing Up: 15.00%
Postural Instability (this is related to ataxia, but just in case): 12.50%
Hypogonadism: 12.50%
Seizures: 12.50%
Constipation/Fecal Impactation: 12.50%
Panic Attacks: 10.00%
Weight Loss: 10.00%
Excessive Sweating : 10.00%

I would like to donate the entire data in our registry database to the patient organizations. I feel patients should own the data collected from patients.

Although these symptoms sound awful, I am still hopeful. We are making steady progress. I believe in the power of genetic medicine. I always appreciate support from our patients and families, patient organizations, our colleagues in St. Louis, US, England, Europe, South America, and Asia. I feel grateful. Thank you, Thank you, Thank you.

Kindest regards,
Fumi Urano

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

I receive many emails and phone calls from patients with genetic disorders, including Wolfram syndrome, and diabetes. Most of them have questions related to their conditions. I also receive thank-you letters. I appreciate all of these emails, phone calls, and letters. I always learn some thing out of these. 

Our therapeutic development is largely supported by donations from patient organizations, patients, and their family members and friends. The Jack and JT Snow Foundation has been supporting my team since I joined Washington University Medical Center in 2012. Recently the Ellie White Foundation has started supporting my team. The team Alejandro and the team Ian also started supporting us. I also receive individual donations all the time. Patient organizations in the US and UK are raising awareness. I cannot thank you enough. I feel grateful.

I read the blog written by Lauren, one of our patients, yesterday and was struck by that. I hope you will read this. 

Thank you for your support. I feel grateful. Thank you, Thank you, and Thank you.

Take care,

Fumi Urano

Safety

We have identified a few small molecules (i.e., drugs) that can potentially delay the progression of Wolfram syndrome. Our current focus is to make sure these drugs are safe. Ultimately, we need to confirm the safety in patients by conducting dose escalation studies. 

I had productive discussions yesterday. Both meetings were fruitful. I feel hopeful today. Thank you so much for your support and encouragement.

Warmly,
Fumi Urano

One day living with juvenile diabetes

Our teammate, Mrs. Pat Gibilisco, who runs our patient supporting group web introduced us a very important short video. 

This short video describes "one day" of a 7-year-old boy with juvenile diabetes. As many of you are aware, chronic disease never leaves you. You need to live with it 24/7. You can't take a break even on Sundays and holidays. We need to educate patients how to live with it, but what we really want is to provide a cure. It is not easy, but I always believe that's what we should pursue. 

Thank you for reading this. I will have very important meetings today and I am hopeful. 

Kindest regards,
Fumi Urano

Raise Awareness for the younger generation

Mrs. Stephanie Snow Gebel, my teammate and the driving force for our Wolfram syndrome research, gave a presentation on Wolfram syndrome and juvenile diabetes for 600 children yesterday. It was successful. She has been helping us raise awareness and raise funds for therapeutic development. It is important to raise awareness for the younger generation of rare diseases and other medical conditions. We will keep on raising awareness of Wolfram syndrome. We need HOPE to move forward.

Thank you for visiting this website. I am sending kind thoughts toward you.

Kindly,
Fumi Urano

Thank you, Wolfram syndrome UK

Wolfram syndrome UK just hosted a successful  'A Night at the 80's' event! They have been working very hard to raise awareness and funds for combating Wolfram syndrome. I look forward to meeting with them soon. 
http://www.wolframsyndrome.co.uk/index.html

I hope you have a wonderful Monday. Thank you for reading my blogs. I appreciate your support, suggestions, and encouragement. 

Kindly,
Fumihiko (Fumi) Urano

A platform to inject stem cell-derived cells or trophic factors

We have started a workgroup whose main purpose is to create a practical clinical platform to inject stem cell-derived cells or drugs stereotactically into human patients with degenerative disorders, including Wolfram syndrome, as a therapy. We will also discuss the merits of one therapeutic strategy over another as well. Our focus is the physical, infrastructural, and regulatory aspects of achieving this. I will work with prominent neurosurgeons. More to come. http://wolframsyndrome.dom.wustl.edu/

Thank you for reading this. I feel hopeful. Have a beautiful Sunday. Wishing you A happy week ahead. Kindly, Fumi

Think ahead for transplantation

I was speaking with my good friend in neurosurgery last night. We talked about the injections of trophic factors and stem cell-derived brain cells into patients with Wolfram syndrome and other degenerative disorders. Our conclusion is that we should start preparing for these now. We need a CLIA-Certified facility to create stem cells using patients' skin cells (not the embryonic stem cells) and stem cell-derived brain cells and eye cells. We need devices for injections of trophic factors and stem cell-derived brain cells. We need to think ahead. The stem cell-based therapy group started last night. http://wolframsyndrome.dom.wustl.edu/

Thank you for reading this blog. I hope you have a wonderful weekend. I feel empowered today. Kindly, Fumi Urano