Author: urano

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. […]

The biotech I mentioned yesterday is taking a very interesting strategy. They are trying to use a tablet (i.e., a pill) for delaying the progression of eye diseases. Clinical Trials 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 […]

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 […]

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 […]

I receive around 200 emails from patients with Wolfram syndrome and Type 1 diabetes every week. They ask me questions, and they share their stories with me. I can keep on going because of them. Please read the stories of patients with Wolfram syndrome, and help us spread the word. It is my privilege to […]

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 […]

I received many questions about yesterday’s blog describing the clinical application of a new DNA sequence technology. ER Disease Clinic 2 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 […]

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 […]

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 […]

Thank you for your valuable feedback for my blog yesterday. I 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 […]

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 […]

Thank you for your feedback for my blog. 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.

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). As I mentioned in my previous blogs, the law allows physicians to prescribe a FDA-approved drug to treat a condition for which it is not approved. This […]

I am excited by a new collaboration with Amarantus Bioscience to develop a revolutionary therapy for Wolfram syndrome, the most difficult form of blindness and diabetes. We will use MANF protein derived from human brain to achieve this goal. Amarantus is a leading biotech company developing MANF-based therapies for neurodegeneration and blindness, and my team […]

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 […]

I presented my strategy for providing a cure for Wolfram syndrome yesterday. I think there are three steps to achieve this. 1. Stop the progression2. Protect and Regrow remaining tissues3. Replace damaged tissues Our current focus is to “Stop the progression” of the disease. We are testing if FDA-approved drugs currently used for other diseases […]

Our annual Wolfram research clinic was done yesterday. It was a big success! We will have a workshop today, and I will present our strategy for providing a cure for Wolfram syndrome.

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 […]

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. 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 […]

Yesterday, I told you that each patient was different and should be treated differently. Medicine is ART.http://wolframsyndrome.blogspot.com/2014/07/each-patient-is-different-for-sure.html What are our options right now? Our current option is:Use FDA-approved drugs currently indicated for other diseases to delay the progression of Wolfram syndrome. We have identified two diabetes drugs, one neuronal disease drug, and one immunosuppresive drug […]

The more I know of Wolfram syndrome, the more I am convinced that each Wolfram patient is different. My team recently found a molecular pathway altered in Wolfram patients. The altered pathway is the same, and the manifestations are different. How should we treat them? I feel that each patient should be treated differently. We […]

We have been trying to replace the disease-causing Wolfram gene segment with a “healthy” Wolfram gene segment in iPS cells from patients with Wolfram syndrome. Why do we need to do it? Even if we can successfully make high-quality eye cells and brain cells from iPS cells of Wolfram syndrome patients, these cells may degenerate […]

My answer is yes. Our current focus is to choose the best FDA-approved drugs that can delay the progression of Wolfram so that we can immediately start treating our patients (off-label use). Based on our current results, our candidate FDA-approved drugs are not perfect. Because they are designed for other diseases, these drugs should be […]

We host a Wolfram syndrome research clinic once a year at the Saint Louis Children’s Hospital. I get many questions about this clinic. This is a research clinic and invitation only, and we don’t provide any treatment. We perform multiple tests to get information from patients. We have learned a lot from these research clinics, […]

Why are we creating eye cells using skin cells from patients? More accurately, we are creating two different types of retinal cells using stem cells derived from skin fibroblasts of patients with Wolfram syndrome. We can immediately use these cells to understand the mechanisms of the disease and test the efficacy of candidate drugs. That’s […]

I could successfully send out my grant application on therapeutic development for Wolfram syndrome this weekend. I would like to thank my colleagues, collaborators, and administrators for this. It was a lot of work. I sincerely hope that this will be funded to accelerate our research and start an interventional study as soon as possible. […]

The first step for providing a cure for Wolfram syndrome or any disease is to stop the progression of the disease. We are taking two strategies that are correlated. Here is my concept, and we are making progress in both areas. How do we test candidate drugs? We are using iPS cells derived from skin […]

We are developing a treatment for optic nerve dysfunction and death in Wolfram syndrome, and creating different types of eye cells from iPS cells derived from patients’ skin cells. I feel fortunate that I could find eye doctors who are willing to work closely with my team. I hope you had a wonderful July 4th!

Inhaled insulin has been approved by the FDA, and I received many questions about “inhaled insulin” this week. I recommend that you consult with your physician about the use of inhaled insulin because each patient is different. Because it is inhaled, it is quickly absorbed from the cells in the lungs. So its levels increase […]

Although I believe in the power of genetic testing to make a correct diagnosis and create a treatment plan, I acknowledge that there are limitations to it. Genetic testing gives us important information to understand what’s going on in each patient, whereas it does not perfectly predict what will happen to the patient at hand. […]

As we have learned more about patients with Wolfram syndrome, we have discovered that each patient is different. Dr. Timothy “Tim” Barrett, a world-famous expert of Wolfram syndrome in England, told me the same thing. So what should we do? I think that we should treat each patient differently. We should have multiple options for […]