I think a lot about a new platform for endoplasmic reticulum disease and other rare diseases.
The new clinic requires new expertise in addition to conventional neurology, ophthalmology, and endocrinology. I feel that regenerative therapy and modern medical genetics based on high-throughput sequencing are the key players.
I found an interesting video describing regenerative medicine.
https://www.youtube.com/watch?v=v-Q2kghHwq4
I hope you will have the best week in your life.
Some people say that it is not realistic to develop a novel therapy to stop the progression of eye manifestations in Wolfram syndrome. I don’t agree.
It is possible. If we can modulate ER stress in retinal cells, we can slow or stop the progression of optic nerve atrophy in Wolfram syndrome. I have found a biotech company in Seattle that is developing novel therapeutics for “sight-threatening” eye diseases. If they can do it, we can do it. http://acucela.com/About-Us
The biotech I mentioned above is taking a very interesting strategy. They are trying to use a tablet (i.e., a pill) for delaying the progression of eye diseases.
https://clinicaltrials.gov/ct2/show/NCT02130531?term=acucela&rank=1
I was envisioning that I would use ophthalmic suspensions (eye drops) or intravitreal injections (injection into eyes) for stopping eye manifestations in Wolfram syndrome, but we should also think about using pills.
Regenerative Medicine and Regenerative Therapy are the same concepts. Regenerative Therapy focuses on the clinical application of regenerative medicine. Regenerative therapy aims at growing tissues and organs from stem cells derived from patients in the laboratory and implanting them to patients.
When we establish our ER disease clinic, we should include “regenerative therapy” into our platform in addition to endocrinology, neurology, and genetics.
We have established more than 100 stem cell lines from Wolfram patients. We are currently differentiating them into eye cells and brain cells. There are many ongoing clinical trails using stem cells. My goal is to join them as soon as possible. There are many hurdles and challenges, and we need to solve them one by one.
http://clinicaltrials.gov/ct/search?term=stem+cell&submit=Search
One of my goals is to practice “Personalized Medicine” in our clinic because each patient is different.
The power of genetic medicine should be fully utilized. I believe that whole genome sequencing and exome sequencing are useful for making an accurate diagnosis. The information we get from patient’s DNA can be utilized to choose the best specialists for each patient and design a regenerative therapy or gene therapy. I will talk about this more.
I feel that something wonderful is going to happen to you today!
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!
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.
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.
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!
What is the first step to provide the best care for patients with rare endoplasmic reticulum diseases, including Wolfram syndrome? The answer probably applies to any undiagnosed disease.
My answer as of today is “exome sequencing.” What is exome sequencing? Exome sequencing is a new technology to sequence all the genes in each patient. This is available at our medical center. By looking at all the genes instead of one gene (such as WFS1 gene), we have a better chance to understand what is really going on in each patient. This is also critical for designing “personalized” treatment. As I mentioned before, each patient is different, and should be treated differently. We should look at all the genes, not one.
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.
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.
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.
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“.
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.
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.
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
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.
Our 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.
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