Author: urano

I am always willing to visit an event hosted by a patient organization if my schedule permits. I will give a lecture on the therapeutic development of Wolfram at the University of Birmingham Medical Center soon. I appreciate that Dr. Barrett, the Wolfram doctor in the world, has given me an opportunity to do so. […]

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

I have found several news reports describing our discovery of our drug targets and a potential drug for Wolfram syndrome. These reports are written in lay terms and easy to understand. I appreciate these journalists help us raise awareness of Wolfram syndrome. http://medicalxpress.com/news/2014-11-muscle-viable-treatment-wolfram-syndromerare.html http://www.foxnews.com/health/2014/11/25/muscle-relaxant-may-treat-rare-form-diabetes-scientists-find/ http://www.sciencedaily.com/releases/2014/11/141124152604.htm Thank you again for reading this. I am grateful. Take […]

Wolfram is the most difficult form of diabetes because patients suffer from other symptoms in addition to diabetes. It is a 24/7 job to manage Type 1 diabetes. On top of that, patients with Wolfram syndrome need to manage other conditions, including diabetes insipidus, bladder problems, mood swings and etc. It is almost like having […]

Because we have identified a potential drug for Wolfram syndrome, the most important thing for us right now is to determine the dose of the drug which is safe and effective. We have created several systems to accomplish this. We have to make sure that our new treatment is safe. Thank you for reading this. […]

Our article on the discovery of a drug target and a potential therapy for Wolfram syndrome has been just published in the Proceedings of the National Academy of Sciences, one of the most respected journals in Science. Our article has been published in the Medical Science section. “This is freely available online.” This is the […]

There is currently no effective treatment for Wolfram syndrome, creating an urgent need to develop novel therapeutics to stop the progression. We are focusing our efforts on this. However, we need to think ahead. After we stop the progression, we still need to replace damaged tissues and protect remaining tissues from cell death. To replace damaged tissues, we […]

44? People in 44 different countries have been looking at our Wolfram syndrome website. Our website administrator, Mrs. Susan Schumacher, provided me with the information. I was very surprised. I sincerely hope that our website provides the planform for patients to get useful information about Wolfram syndrome. Clearly, we need a novel treatment. Warmly, Fumi Urano

Thanks to the efforts of our web administrator, we can store downloadable information on our Wolfram syndrome website. It is under “About Wolfram syndrome”. I welcome any feedback from you. Please feel free to send me email, urano@dom.wustl.edu. Thank you for reading this blog. I hope you have a wonderful day. Kindly, Fumi Urano

Here is a brief summary of our small-scale drug screen to identify novel drugs for Wolfram syndrome. We have identified 8 drugs. 4 out of 8 are FDA approved drugs for other indications. 3 out of 4 seem to have the same mechanism of action What is the “mechanism of action”? It refers to the targets […]

I communicate with patient organizations in the US and abroad every day. Wolfram syndrome UK is a patient support group in England. They have been actively helping us raise awareness of Wolfram syndrome. To achieve a cure for Wolfram syndrome, we need to develop novel therapeutics. At the same time, we need to raise awareness to identify […]

Q: What is personalized medicine? A: Personalized Medicine is a modality to design a customized treatment for each patient using molecular (DNA) analysis. This is a new concept of medicine. I believe this will be quickly integrated into our day-to-day practice. I feel that personalized medicine is particularly important for designing treatment for conditions in […]

Wolfram is the most difficult form of diabetes because patients suffer from other symptoms in addition to diabetes. It is a 24/7 job to manage Type 1 diabetes. On top of that, patients with Wolfram syndrome need to manage other conditions, including diabetes insipidus, bladder problems, mood swings and etc. It is almost like having […]

In addition to developing therapeutics and diagnostics for Wolfram syndrome and seeing and speaking with Wolfram syndrome patients, I speak with medical officers and scientific officers of pharmaceutical and biotech industries almost every day. Why? One of our advisors once said to me, “You are doing RESEARCH, not developing therapeutics.” I was a little shocked. […]

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 […]

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. […]

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. I am interested in donating my intellectual properties to patient organizations. A clinical trial for new […]

To identify drug targets for Wolfram syndrome, we have been analyzing molecular pathways altered in Wolfram syndrome patients. We have recently identified a calcium-dependent enzyme that is highly activated in Wolfram syndrome and discovered a drug that can reverse this process. The complete understanding of the pathway leading to the activation of this enzyme will provide […]

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 […]

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 […]

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 […]

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 […]

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 […]

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 […]

Here are the questions I often get. There is currently no effective treatment for Wolfram syndrome, creating an urgent need to develop novel therapeutics. Our current strategy is to delay the progression of common manifestations using small molecules (i.e., drugs), and then develop stem cell-based therapies. I hope you have wonderful Friday. Take care, Fumi […]

I see great potential in stem cell-based therapies, especially induced pluripotent stem cells (iPS cells) derived from patients’ skin cells. At the same time, I am aware of challenges we may face. One of the major issues is safety. Because stem cells can differentiate into any types of cells, there is a chance that these […]

It is important for us to raise awareness of Wolfram syndrome and other rare diseases. I often talk about this topic because this is so important. We need more doctors who know about Wolfram syndrome in each state or city. We need to develop new treatments for the disease and bring them to patients as […]

One of the most important developments in my team is our collaboration with Dr. Raj Apte’s team. Dr. Apte is a renowned physician-scientist and expert in retinal surgeries and molecular biology. His past accomplishments are outstanding and he has received numerous awards and honors. His and our teams are working together to make new mouse […]

I received an intelligent and important question yesterday. Q: iPS cell-derived insulin-producing cells may be attacked again by autoimmune cells in Type 1 diabetes. iPS cell-derived insulin-producing cells and eye cells may degenerate again in Wolfram syndrome. What is the solution? A: This is a very important question. Before we transplant iPS cell-derived cells, we […]

Here is another question related to stem cell-based therapies. Q: How long will it take for stem cell-based therapies to become mainstream? A: There are multiple ongoing clinical trials based on stem cell-based therapies. I feel that the development of workflows for manufacturing and quality control is one of the key issues. Regulators (such as FDA), […]

Here is another question I often get. Q: How can we use stem cells for the treatment of Wolfram syndrome and Type 1 diabetes. A: Stem calls can differentiate into specific cell types including insulin-producing cells, retinal cells, and brain cells.  The most important function of stem cells, especially induced pluripotent stem cells (iPS cells), […]

I have been receiving many questions related to stem cell-based therapy for Wolfram syndrome and diabetes. I would like to share these questions and my answers with you. Q: What are stem cells? A: Stem cells are a type of cells that have potential to develop into many different cell types, including insulin producing cells […]

It has been just published that a stem cell-based therapy for macular degeneration is safe and effective for macular degeneration, one of the leading causes of blindness. Stem Cell Success in treatment in sight loss from macular degeneration We should follow their success and I am in constant motion to make this happen for patients with […]

My team has been working on establishing gene-based diagnostics for rare forms of diabetes. This article in New Yorker reminds us of the importance of genetic medicine and gene-based diagnostics. One of a Kind We clearly need new and innovative therapeutics for each genetic disorder. To accomplish this, we need new diagnostics to figure out […]

I always feel that we should raise awareness of rare diseases to provide a cure. We certainly need new therapeutics. We need small molecules to halt the progress. We need stem cell-based and genome-engineering-based therapies to provide a cure. My team has been working on small molecules, stem cells, and genome editing. However, we need […]

We are actively using induced pluripotent stem cells (iPS cells) to develop therapeutics for Wolfram syndrome. What are iPS cells? These are a type of stem cells derived from our skin cells. iPS cells can be differentiated into any types of cells. So we can use these cells to replace damaged tissues in patients with […]

Dr. Francis Collins is my role model and I have been trying to emulate what he has done on cystic fibrosis and progeria. Dr. Collins is a lucent speaker. His presentation on translational medicine at TED MED was fabulous, and I hope you will watch this when you get a chance. Sam Berns, his friend […]

Dr. Francis Collins is a world-famous medical researcher and my role model. He is a god in genetic medicine. He has been working on multiple rare diseases. Currently he is director of the National Institutes of Health. I often read one of his blogs on Sam Berns, his friend and patient with a rare disease. […]

What is “VUS”? VUS stands for variant of unknown significance. VUS means that DNA sequence variation is previously unreported and is of the type which may or may not be causative of the disorder. Some variations are tightly linked to the disease, and some variations are clearly not linked to the disease. There are still […]

What is genetic testing? It is the process of using medical tests to look for clinically relevant changes in a person’s genes. Genetic testing has utility in DiagnosisPrognosisTherapeutic decision making Currently, genetic testing for Wolfram is useful for making diagnosis and estimating prognosis. I believe that it will be useful for therapeutic decision making in […]

A few days ago, someone asked me, “How many beta cells do we have?” Based on the literature, we have “1 billion” insulin-producing beta cells in the pancreas. If we lose 50% of them, we may have symptoms of diabetes. So to provide a cure for diabetes, we need to create “1 billion” beta cells […]