Author: urano

My current focus is to delay the progression of Wolfram syndrome using small compounds (i.e., pills), especially repurposing currently available FDA-approved drugs. I am aware that this is not good enough because many of our patients have lost tissues producing insulin, maintaining brain functions, and preserving visual acuity. In collaboration with biomedical engineers and biotechs, […]

Here is a question that I often get. “Should we get our child’s genome (i.e., the entire DNA information) sequenced?” This is a challenging question because my answer to this question may change based on the development of our technology. As of today, my answer is “No.” The contrast between our ability to identify genetic […]

We had another fundraising event at Manna in Wilmington on July 8th. This was hosted by the Ellie White Foundation. I was gratified to know that the event was successful. My research for the therapeutic development for Wolfram syndrome has been supported by multiple patient organizations. I would like to thank everyone who attended the […]

International Network of doctorsI have been trying to expand the network of doctors who see patients with Wolfram syndrome. It is becoming international. Dr. Iwasaki in Tokyo, Japan, has agreed to be a point-of-contact doctor in Tokyo. She has a few patients in her area. Please feel free to send me email in Japanese (urano@dom.wustl.edu) […]

I receive phone calls and emails from patients and their physicians every single day. One of the most frequent questions I get concerns the relationship between some specific symptoms and Wolfram syndrome. For example, is iron deficiency anemia related to Wolfram syndrome? The answer is no. How about urinary tract infection? The answer is yes […]

We have identified three drug targets for Wolfram syndrome in the past two years. These are MANF, Calpain 2, and IRE1. What is the difference between these three molecules. Here is a short summary. MANF: Enhances survival and proliferation of remaining cells. Caplain 2: Activates cells death signal in Wolfram and Diabetes. So we need […]

Our manuscript on the discovery of mechanisms of ER stress-mediated cell death has been just published in Science signaling. This study is part of our continued efforts to develop novel treatments for Wolfram syndrome. The method introduced in our study can be used to test the efficacy of new drugs. Our drug discovery efforts are moving forward. […]

I have been trying to create the Endoplasmic Reticulum Disease Center to develop novel treatments for Wolfram syndrome and other diseases associated with ER stress/ER dysfunction. Some forms of early-onset diabetes are associated with ER stress. Some forms of hereditary hearing impairment are associated with Wolfram syndrome 1 gene mutations. Some forms of retinal degeneration are […]

I always appreciate feedback from my patients. I always try to do my best and listen to what they say. As a physician, it is very important for me to know what their challenges are. I often learn something important from my patients. So please share your experiences with me. Your feedback may lead to a […]

Our fundraising event last week was successful. St. Louis Rams Head Coach Jeff Fisher hosted an annual fundraising event and supported five charities, including the Snow Foundation. http://thesnowfoundation.org/coach-fisher-softball-game-2015/ We have been supported by St. Louis Rams and St. Louis Cardinals. I appreciate their continued support. Kindly, Fumi Urano

I had a chance to discuss a complicated genetic testing result of a Wolfram syndrome patient with a Greek doctor. I was impressed by his enthusiasm. He was compassionate and tried to figure out what’s really going on in his patient. We could finally figure out what the problem was. We will keep on working […]

We would like to develop simple, accurate, and safe diagnostic tests. If we can diagnose diabetes, neurodegeneration, cancer and other conditions with a single drop of blood, this will reduce the burden of our patients. They don’t have to stay in the hospital for long hours. This is an area that clinical medicine is rapidly […]

I just came back from Boston. I attended the annual meeting of the American Diabetes Association and gave two lectures on Wolfram syndrome. I felt that I could raise awareness of the disease. I met with many doctors from all over the world who see patients with Wolfram syndrome. I have set up multiple collaboration […]

One of our patients passed away Sunday night. I will think about her tonight. I will just think about all the interactions that I had with her and her family. They are wonderful people. I feel my own helplessness. I came here to find a treatment for Wolfram and have not accomplished it yet. I […]

My top priorities are to: 1) repurpose a FDA-approved drug and 2) develop novel drugs for Wolfram syndrome. I am also looking into environmental factors, diets, and life-styles that can potentially delay the progression of Wolfram syndrome. One of the possibilities I am looking into is to keep our blood sugar steady (i.e., maintain normoglycemia). I […]

My family attended the fundraising event for Wolfram syndrome, Run for Wolfram syndrome 5K, today in St. Louis. http://thesnowfoundation.org/run-wolfram-5k/ So many people joined this event and ran for Wolfram syndrome. The Snow-Gebel Family, the Bieser family, Dr. Naseer’s family, and Anne Harkin from the Snow Foundation were all there. I was so impressed by the support from […]

Dr. Barrett and I gave lectures on Wolfram syndrome at the Japan-Korea Diabetes Symposium in Japan this week. Our lectures were successful. I had a chance to speak with Japanese physicians who see patients with Wolfram syndrome. The president of Japanese Diabetes Association, Dr. Tanizawa, and the President of the American Diabetes Association, Dr. Dagogo-Jack, […]

I had a very productive meeting recently with a doctor from India. He came to see me because he has many patients with Wolfram syndrome in his clinic in India. I was so impressed by his dedication to his patients with Wolfram syndrome. We discussed many things including a joint clinical study. It is my […]

My current priority is to bring an existing drug that can control endoplasmic reticulum (ER) functions to our patients with Wolfram syndrome. However, this is not good enough to halt the progression and/or reverse symptoms. We need to design a new drug that is specifically designed for Wolfram syndrome. How can we achieve this? We […]

My highest priority right now is to repurpose existing drugs for treating our patients with Wolfram syndrome. In parallel, we need a marker that can be easily monitored every week. This marker will tell us if the treatment is working. We also need an assay to monitor the levels of each marker. My team has […]

I ask this question to myself every single day. The answer is “ourselves.” We should create the strong community and get out together to ask for help (i.e, money). We have drug targets. We have a potential drug approved by FDA. If we have two million dollars right now, we can complete a preclinical study […]

I receive many emails, letters, and phone calls every day from patients with Wolfram syndrome and unusual forms of diabetes and their families and doctors. Many of these are related to their medical conditions and potential treatments. Some of these are personal. I received a message from a mother who had lost her daughter due […]

April was a challenging month for us, but now we know how to overcome challenges and are getting better to find other solutions. Together with the Snow Foundation, we have figured out to continue our preclinical studies required for setting up an interventional study for Wolfram syndrome. I received so many emails last month when we […]

I have some good news to share with you. We have just joined the Global Rare Disease Registry Program of the National Institutes of Health (NIH)/National Center for Advancing Translational Sciences (NCATS). Dr. Austin, Director of NCATS, and Dr. McInnes, Director of the Office of Rare Disease Research, helped me to make this happen. Dr. Yaffa Rubinstein […]

We had a successful fundraising event yesterday in St. Louis hosted by Alex’s Army and the Snow Foundation. My family, the Gebel Family, and Dr. Naseer attended the event. We played bowling together and shared out thoughts. Thank you so much for coming to the event. Thank you, Thank you, Thank you. Take care, Fumi […]

My visit to NIH, NCATS, with Stephanie Snow Gebel, Chairman of the Board of the Snow Foundation, was quite successful. We have had multiple discussions in the past two weeks and agreed to develop novel chemical compounds (i.e., drugs) for Wolfram syndrome. We will target the endoplasmic reticulum. This will be a three-way collaboration with NCATS, […]

I feel that we are getting closer to the tipping point for developing treatments and establishing firm international collaborations for potential future clinical trials. I have been continuously working to make the medical research field tilt toward us, the Wolfram syndrome program. I keep on moving forward. I understand that you are facing challenges related to […]

We need to take action. Many doctors and scientists have great ideas to develop novel treatments for Wolfram syndrome and type 1 diabetes. Only a fraction of these ideas have been implemented and translated to save patients. We need to take action. We need to use the highest level of science to help patients. For […]

I will find out the outcome of the Bear Cub Fund early next week. Please wish me luck. The money will be used to complete our preclinical studies to set up the clinical trial for Wolfram syndrome. We really need to get the full amount. I am praying. Looking forward with fingers crossed, Fumi Urano

Our visit to San Francisco was successful. We had multiple meetings and tried to get funds for research on Wolfram syndrome. Dr. Saad Nasser, Stephanie Snow Gebel, Anne Harkin, JT Snow, and myself did our best. I have no regret. I feel that something big is coming to us. I appreciate your continued support. Take […]

I came back to San Francisco with the Snow Foundation. Our first day was productive. We will meet with different types of people to accomplish our goals, Raise Awareness, Improve Clinical Care, and Develop Novel Treatments for Wolfram syndrome. I feel that something wonderful is going to happen to us here. I am hopeful. I […]

I was reading the NY Times today and found out that some scientists suggested that we should be careful about using the new genome editing technology. The article says, “The biologists fear that the new technique is so effective and easy to use that some physicians may push ahead before its safety can be assessed. […]

I will make a presentation for the Bear Cub Fund on Wednesday, April 1st, to get the seed funding for our potential clinical trial for Wolfram syndrome. I could pass the Round 1 in February. Now, I need to compete with 10 other finalists. I need to convince judges that it is important to develop […]

I often feel frustrated. I believe that we are doing the right thing. It is important to develop novel treatments for Wolfram syndrome although this is an ultra rare disease. It is not good enough to know how to manage our patients’ conditions. I feel frustrated because some people don’t understand that it is urgent […]

I came back from Boston this morning. Although I had to wake up 3:30 am to catch the first plane to St. Louis to attend multiple meetings to prepare for my trip to NIH, I felt empowered. One of the most important things that I would like to introduce at NIH is the establishment of the […]

My trip to Boston was successful. I could set up a few collaborations on Wolfram syndrome. I will focus on my trips to SF and NIH to get funds on these collaborations. Thank you for your continuous support. Kindly, Fumi Urano

I am in Boston today. I had a nice discussion on the endoplasmic reticulum (ER) disease center. Wolfram syndrome is a prototype of ER disease, and I have identified three more disorders related to ER dysfunction. Through the center, we should be able to create a platform to develop functional assays for mutant genes and […]

I was reading a blog written by Lauren Gibilisco yesterday and felt empowered. Lauren is my hero. The reason is she gives me strength and keeps me going. She is living with Wolfram syndrome. I am not. I think about Wolfram syndrome 24/7, but I am not living with it. Because I am not living […]

I am an underdog. I am a physician originally from a foreign country. Unexpectedly, I was recruited as an endowed professor at the prominent medical center in the US. I understand that not everyone is happy about it. However, I feel that a higher power gave me a chance to make a difference on this planet. I want […]

Today, TEAM ALEJANDRO will participate in The Oakland Running Festival in their 5TH Annual Run to Beat Wolfram Syndrome. TEAM ALEJANDRO runs in support of my friend, 11 year-old Alejandro, and of all children affected by Wolfram Syndrome. https://www.crowdrise.com/TeamAlejandro I am thinking of you. Something wonderful is going to happen to us today. Warmest regards, […]

Rare diseases may start from relatively common symptoms, such as diabetes. In rare diseases, another symptom (or symptoms) which seems unrelated often starts to manifest later. In the case of Wolfram, this is optic nerve atrophy, diabetes insipidus, or hearing impairment. These symptoms seem unrelated, but they are related. The same molecular wiring altered in […]

I spoke with and met with a few family members whose sons/daughters were diagnosed with Wolfram syndrome this week. I would like to emphasize something really important here today. Please feel free to contact me. Please don’t seek answers online. The information you find online may not be accurate or exaggerated. Each patient is different. I would […]

We have created multiple mouse models of Wolfram syndrome to test the efficacy of therapeutic candidates. In addition, we have been developing human cell and tissue models of Wolfram syndrome using induced pluripotent stem cells (iPS cells) derived from patients’ skin cells. These models may enable us to predict more accurately how effective a therapeutic candidate […]

I was reading a scientific journal the other day and learned something amazing. The group at NIH reported that a rare immune disease was spontaneously cured by a gene rearrangement. In one patient with a rare immune disease, his immune cells underwent a gene rearrangement and regained their ability to combat infections. This was an […]

Wolfram syndrome is characterized by juvenile-onset diabetes, optic nerve atrophy, and neurodegeneration. It seems like that there is a strong link between Type 1 diabetes and Wolfram syndrome, Dysregualted Endoplasmic Reticulum Calcium Homeostasis. If we can control this using a drug, we can potentially treat both diseases. We have a candidate drug and hope to […]

The Snow Foundation and I have been working together to create a private online Wolfram syndrome community. This community will help those living with Wolfram syndrome find individuals who are on the same journey. This Wolfram syndrome community will help patients and their loved ones start conversations, share treatments, experiences, challenges, and feelings. All information […]

My visit to Brussels has been fruitful. I attended the EU-US Wolfram syndrome clinical study meeting. I am serving as a Deputy Director and Dr. Barrett in England is a Director. This is a platform for our International Wolfram Syndrome Consortium and Clinical Trials. So this is so important for our patients. I think I […]

As I mentioned a few days ago, I could identify several disorders related to Wolfram syndrome. These patients do not develop all the typical symptoms of Wolfram syndrome. They only develop diabetes, deafness, or optic nerve atrophy. They sometimes have mutant Wolfram syndrome genes, but in many cases they don’t have mutant WFS1 genes. They […]