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The Last Advice from late Dr. Alan Permutt

I talked about medicine and DNA too much in the past several days. So let’s take a break and talk about Dr. Permutt.

Dr. Alan Permutt

The late Dr. Alan Permutt

As many of you know, I took over Dr. Alan Permutt’s research program on Wolfram syndrome two years ago. I believe that it was controversial that a young foreign physician would take over Dr. Permutt’s position. As I mentioned in my previous blogs, I was leaving research when Dr. Permutt asked me to come to Washington University. So I talked with him many, many times before I made a decision. He assured me that other Washington University doctors, including Dr. Semenkovich, Dr. Fraser, Dr. Hershey, Dr. Marshall, Dr. White and others, would help me. He also told me that the Snow Foundation would support me. What he told me was all true. All the doctors have been supportive and helping me a lot, which I always appreciate. The support from the Snow foundation is enormous. I always feel that our higher power lets us work together.

The last advice from Dr. Permutt was the following.
“Fumi, All of my colleagues will help you. Just trust them. You will take us to the next level, and all of your new colleagues will help you.”

I see a big smile in your face! I hope you will have the best day in your life. I am sending kind thoughts towards you!

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Endoplasmic Reticulum Disease Clinic 3: Personalized Medicine

By Dr. Fumihiko Urano

I received many questions about yesterday’s blog describing the clinical application of a new DNA sequence technology. So I would like to clarify a few things.

1. Cost

There is a lot of discussion about the cost. Will our health insurance cover this? I believe that it will be covered in the near future. To sequence all the genes in each patient is equivalent to taking the perfect past medical history and family history. So there is a tremendous value in doing this.

2. Personalized Medicine

It is critical to sequence all the genes in each patient for designing a treatment strategy. Each patient is different, and we should design a personalized treatment plan for each patient. I am designing a few treatments for Wolfram syndrome patients. One of the treatments that I have designed should work for patients who have WFS1 gene mutations, but not for patients who have WFS2 gene mutations. I have many other examples.

I hope that you will have the best week in your life! Talk to you tomorrow!

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Stem cell-based therapy using skin cells from patients

I have been thinking a lot about stem cell-based therapy for patients with Wolfram syndrome. We have created many induced pluripotent stem cell lines (iPS cell lines) using skin cells from patients with Wolfram syndrome. In theory, we can create any types of cells using these iPS cells.

The idea of stem cell-based therapy for diabetes and neurodegenerative diseases is not new anymore, and there are multiple ongoing clinical trials. The key to success for stem cell-based therapy is to establish methods for creating high-quality insulin-producing cells, eye cells, and different types of brain cells. We should keep on working on stem cell-based therapy for Wolfram syndrome.

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Combating Wolfram Syndrome

We have the pleasure of sharing the posts from Dr. Urano’s blog “Combating Wolfram Syndrome”.  Below are his posts for the week of July 21-25.

Friday, July 25, 2014

Endoplasmic Reticulum Disease Clinic 1

Thank you for your feedback for my blog.
http://wolframsyndrome.blogspot.com/2014/07/a-platform-for-providing-immediate-care_24.html
We need to consider multiple factors and logistics for establishing “Endoplasmic Reticulum Disease Clinic.” We need space, motivated physicians and nurses, and knowledgeable administrators. To accept out-of-state patients, we need to provide information and discount of hotels nearby. I feel that we can accomplish this.

Thursday, July 24, 2014

A Platform for Providing An Immediate Care for Patients 2

Thank you for your valuable feedback for my yesterday’s blog.
http://wolframsyndrome.blogspot.com/2014/07/a-platform-for-providing-immediate-care.htmlI feel that we need to create an interdisciplinary clinic where the integration of physicians across disciplines can lead to an improvement in the management of patients with Wolfram and Wolfram-related disorders (diseases related to ER stress). The key is that all the physicians are on the same floor and a patient can see them on the same day. I am working on a blueprint. Let’s call it “Endoplasmic Reticulum Disease Clinic“.

Wednesday, July 23, 2014

A Platform For Providing An Immediate Care for Patients 1 

I often think about this topic. What is the best platform for providing an immediate care for a patient with Wolfram and other rare diseases? My idea is to establish a multidisciplinary clinic for Wolfram and related diseases. When an undiagnosed patient comes to a hospital, he/she will see a medical geneticist/internist to get a correct diagnosis, and then a patient is referred to multiple specialists on the same floor. The key is that all the doctors are on the same floor so that a patient does not need to walk around a big medical center. I will keep on thinking about this. I welcome any feedback from you.

Tuesday, July 22, 2014

Please contact us if you receive a medicine for an “off-label” use

If you are a patient with Wolfram syndrome and have been prescribed a medicine for an “off-label” use, I would appreciate if you contact us (Phone: 314-362-8683, urano@dom.wustl.edu).
http://wolframsyndrome.dom.wustl.edu/As I mentioned in my previous blogs, the law let physicians prescribe a FDA-approved drug to treat a condition for which it is not approved. This is called an “off-label” use. Many physicians are compassionate, and try to help their Wolfram patients by prescribing a drug for an “off-label” use. I often get questions from physicians and patients related to an “off-label” use. Although I don’t recommend any specific FDA-approved drugs at the moment, I would gladly answer your questions. If you are receiving a drug for an off-label use, we can monitor biomarker levels for you and your physician. I respect your and your physician’s decision. So please contact us. I just want to help.

Monday, July 21, 2014

Consultation Clinic 2

As I mentioned in my previous blog, it would be important to establish a consultation clinic for Wolfram at Saint Louis Children’s Hospital for pediatric patients and at Barnes-Jewish Hospital for adult patients. We can do this using regular clinic space or set up new space. For the latter, we probably need to include other rare diseases into our platform. There are several advantages for this. My big idea is to set up a platform for regular care for patients with rare diseases.
http://wolframsyndrome.blogspot.com/2014/07/consultation-clinic.html

Photo of Dr. Fumihiko Urano Combating Wolfram Syndrome

Dr. Fumihiko Urano

Dr. Urano is 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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New Beginnings – Adam Zwan

By Adam Zwan

Photo of Wolfram GroupThe 2014 Wolfram clinic occurred last week and it was a fantastic one to say the least. It seems that Washington University of St. Louis research clinic has found its second wind because the entire Wolfram research event was operated with ease and everyone, patients and professional, was enthusiastic and relaxed.

The very first year was extremely chaotic because orientation, clinic, and the final meeting all took place in three days. Also, the first participating ten patients were put through every single research test so testing for everyone began at 8 a.m. and lasted until 5 p.m. However, this year was calmer because the logistics and schedule were in favor of each other within a total of five days. Orientation took place on Tuesday night after all patients arrived and some patients were able to begin testing during their initial arrival in St. Louis. For instance, a couple of patients were able to finish their MRI before Wednesday morning came along.

Instead of having orientation first thing Wednesday morning clinical testing could begin right away after breakfast. Wednesday, Thursday, and Friday were like a breeze because patients could choose to have all morning and or afternoon appointments. Also, because scheduling was not such a conflict most physicians were ahead of schedule and could begin the testing early and finish early.

The Wolfram clinic all ended on Saturday morning with thank yous, research updates, and presentations. One thing that was touched on was the advances that are making it possible for clinical trials to begin next year on participating patients in hopes of slowing and or halting the progression of Wolfram. This news caused eyebrow lifts and smiles amongst all Wolfram families. Hearing that research is doing very well and the possibility of medications and stem cell treatment all make the horizon much brighter for the future of Wolfram Syndrome. The 2014 Wolfram clinic has given me along with the other Wolfram patient’s great hopes for the future.

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Three Step Formula to Provide a Cure for Wolfram Syndrome

I presented my strategy for providing a cure for Wolfram syndrome at the clinic this weekend. I think there are three steps to achieve this.

1. Stop the progression
2. Protect and Regrow remaining tissues
3. Replace damaged tissues

Slide01Our current focus is to “Stop the progression” of the disease. We are testing if FDA-approved drugs currently used for other diseases may be beneficial for Wolfram syndrome patients, and we have four candidates. We are also developing new drugs specifically designed for Wolfram syndrome. 

We plan to use MANF for protecting remaining tissues, especially eye cells. Our final step is to replace damaged tissues using regenerative medicine. I will keep on talking about these.

 

 

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Wolfram Research Clinic Day 2: Thank you and Thank you

I always appreciate the efforts of all the medical staff, administrative staff, volunteers, researchers, interpreters, and others who have been involved in the Wolfram syndrome research clinic.

It is my privilege to serve for patients with Wolfram syndrome and work with dedicated people who have been involved in our Wolfram syndrome research. My team has been working very hard to develop a novel drug for Wolfram syndrome.

I believe that our patients who are attending this year’s clinic are a little tired now. Thank you for your patience. Thank you for your faith in us. We have one more day to go!

Fumi Headshot

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Wolfram Research Clinic Day 1: Biomarker???

Wolfram research clinic is ongoing and our patients are going through many tests. At this year’s clinic, we are collecting blood samples from not only patients but also their parents and siblings. Why? The reason is we plan to measure “BIOMARKER” levels in these samples.

What is a biomarker? A biomarker is a molecule found in blood or tissues that is a sign of a disease. We found two candidate biomarkers for Wolfram syndrome. The levels of these biomarkers are higher in patients’ blood samples than in non-patients’ blood samples. These biomarkers can be used to see how patients respond to a treatment.Here is an example. Blue: Patients, Red: Non-Patients.

Here is another one. 1: Non-Patients, 2: Patients, 3: Patients after a treatment

 

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Just Keep Fighting! – Adam Zwan

Adam ZwanEveryone keeps telling me to be proud of myself for dealing with everything I am going through associated with Wolfram Syndrome and not be so hard on myself for any unexpected issue; it seems to always be easier said than done. I know that I have had my fair share of health issues and I am still willing and able to keep moving but incidents, like the one a couple days ago, make it difficult to wake up each morning and accept everything.

It all started with an abnormal schedule due to my on-call employment status. It was a pool class from 9 to 10 a.m., in a room that is kept at 86 degrees, which caused my glucose to fluctuate. After returning home I quickly put my ground turkey in the oven to bake for an hour. Within that hour my glucose dropped and the event began.

For about two hours I felt like I was in a living nightmare. Everything appeared out of order and misplaced. I kept trying to gain my bearings by saying my name and repeating my home address is and that is where I am. Repeatedly, I kept saying “what is going on; am I going insane? Get a hold of yourself!” During all this chaos my father called the house to find out that I sounded strange. The next thing I remember is waking up on the sofa with two EMS officers asking me questions and feeding me a turkey sandwich and orange juice. When I slowly returned coherent the officers informed me that they were called to check on me and when they arrived I was found on the sofa saying wild and unusual things.

To this day I continue replaying the incident step by step in my head trying to come to terms with it all and say ‘This is my life so do the best you can with what you have.” Thinking about events like these make me hurt all over and make me want to find a corner and ball my eyes out. Instead, I keep all negative thoughts and feelings bundled up inside and take it out on myself every morning at the gym. When speaking about my methods to family members they tell me that I should not be so hard on myself and to be proud of all my accomplishments dealing with diabetes and Wolfram Syndrome. In simplest terms, I cannot stop fighting for more and pushing forward with life

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Wolfram Research Clinic – Day 0

By Dr. Fumihiko Urano

Our annual Wolfram syndrome research clinic will start today, and I met with most of the patients and their families last night. I have been very impressed by them.

WS Clinic2014_Raquel Consent

9-year old Raquel Gebel signing her own consent form to participate in the 2014 clinic.

In this clinic, we don’t provide any treatment. We just collect information and samples from patients, their parents and siblings. All of them are so patient and wonderful human beings. My team has been working very hard to identify the best FDA approved drugs (currently used for other diseases) that could delay the progression of Wolfram syndrome (off-label). In parallel, we are developing new drugs specifically designed for Wolfram syndrome to stop the progression (requires clinical trials). We have made significant progress in the past 12 months and I plan to present my strategy on this coming Saturday.

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