Author: urano

Today I will give a lecture on Wolfram syndrome at the University of Chicago. They are offering support on our Wolfram syndrome clinical study. I will do my best to raise awareness and establish firm partnership with their medical center. I hope you have a wonderful day today. Kindly, Fumi Urano

CNS stands for “Central Nervous System.” CNS means brain, spinal cord, and neuronal cells in our body. I have been developing the regenerative therapy group for diseases in the central nervous system together with neurosurgeons, neurologists, and bioengineers in our hospitals. Wolfram syndrome is one of our target diseases. Although patients with Wolfram syndrome develop […]

I have been proposing the concept of Power of Rare Disease. Many rare diseases are caused by mutations in the specific genes. The abnormal molecular wiring emanating from the genetic mutations can lead to multiple manifestations. In the case of Wolfram syndrome, downstream manifestations are diabetes, optic nerve atrophy, and neurodegeneration. The downstream consequences are […]

Stephanie Snow Gebel, her daughter Raquel who has Wolfram syndrome, and myself were on ABC 30 News on Thursday. I received a large number of emails and phone calls yesterday. It seems like that the video is spreading through the internet right now. So I have started getting emails from all over the world. We were […]

Today is a rare disease day, and it has been a busy day for me and now it is ending. I have been interviewed by multiple journalists. I am working on an article entitled “The Power of Rare Disease.” Please stay tuned. We will make a difference in the future of our society together with our […]

Stephanie Snow Gebel, her daughter Raquel who has Wolfram syndrome, and myself were in the Allman Report on ABC Channel 30 last night regarding our partnership for developing treatments for Wolfram syndrome. Dr. Francis Colliins at NIH gave comments for us. It will be on again at 10:30 and 6:30 am this morning. We will […]

Today I was interviewed by the Rare Genomics Institute, a non-profit organization raising awareness and funds for rare diseases. They will feature my team’s work on Wolfram syndrome. This is a great opportunity for us to raise awareness and funds for Wolfram syndrome research. I will let you know once the article is published. http://raregenomics.org/ […]

I want to understand our patients as a person, not as a patient. We do a lot of sophisticated tests, including MRI, blood tests, and genetic and molecular testing, for our patients to understand their disease. We even make induced pluripotent stem cells using their skin cells based on a complex protocol to understand the […]

I always try to do the right thing for our patients. I always think about the best for our patients and seek for the best options for accomplishing three goals, Improve Clinical Care, Raise Awareness, and Provide a Cure. Although many people have offered help, as you can probably imagine, I often encounter challenges. I sometimes […]

Three things are always on my mind, Raise Awareness, Improve Clinical Care, and Provide a Cure for Wolfram syndrome. There are multiple hurdles that need to be cleared. We should be persistent and tenacious. I just sent out one document to the FDA related to one of our candidate drugs for Wolfram syndrome. Several people […]

Rare Disease Day in 2015 is approaching. Many events will be held all over the world on February 28, 2015. This is an opportunity for us to raise awareness of rare diseases. There are around 6000-8000 genetic diseases, and only 250 diseases have treatments. Thank you for reading this blog today. I hope you can relax and […]

We have three goals, Improve Clinical Care, Raise Awareness, and Provide a Cure for Wolfram Syndrome. Each component is important, and the most challenging one is to Provide a Cure. This is the most challenging and the most important one because this will clearly change the prognosis and life of our patients. We need a personalized […]

The Jack and J.T. Snow Foundation is creating a social network that empowers people living with Wolfram syndrome. This helps our patients start conversations, and share treatments, experiences, challenges, and feelings. If you are interested in joining this community, please send email to Anne Harkin, anne@thesnowfoundation.org, 614-787-2377. Thank you for reading this blog. I am […]

Our current focus is to delay the progression of Wolfram Syndrome using a drug already approved for other conditions. We have three goals, Raise Awareness, Improve Clinical Care, and Provide a Cure, and this is the first step for our third and the most important goal, Provide a Cure. One of the things we need […]

The Jack and JT Snow Foundation is becoming international, and the Japanese movie production, IGL-Art, has started supporting our cause. We will support the international fundraising event in Italy. I plan to be there trough the Skype. We have been the underdog, but now we are moving up to raise awareness, improve clinical care, and develop novel therapies […]

The British government has announced to analyze DNA codes of up to 100,000 people and to use their genetic information in treatment and studies of cancer and rare diseases. They will be the first country in the world to use DNA codes in the mainstream of the health service. As a doctor and a researcher using DNA codes to develop […]

I have been working with physicians, researchers, industries, and patient organizations to achieve three goals. 1. Improve Clinical Care 2. Raise Awareness. 3. Provide a Cure We want to make a difference in the future of our patients. Everything we do should be directly beneficial for our patients. I speak and meet with members of […]

Every time I say, “I hope we can…”, my friend and colleague of the Snow Foundation, Stephanie Snow Gebel, asks me to say, “We WILL conduct a trial by… . We WILL find novel treatments.” I have realized that the way we talk affects our motivation and belief. Our motivation clearly helps us achieve our goals. […]

My major focus right now is to stop the progression of Wolfram syndrome using a drug. In parallel, my team is developing gene-based diagnostics for Wolfram syndrome and other syndromic diabetes (i.e., diabetes with other manifestations, such as neurodegeneration). This is important for achieving the early diagnosis of our patients. Once the new therapies are […]

I have learned that Margaret Hamburg, MD, U.S. FDA Commissioner, will step down. Under Dr. Hamburg’s leadership, US FDA has approved many drugs for orphan diseases. I appreciate Dr. Hamburg’s efforts, and hope that this trend will continue to help our patients. Thank you for reading this. I appreciate your continued support. I will give […]

Our top priority right now is to develop a drug to stop or slow down the progression of Wolfram syndrome. We need to accomplish this as soon as possible because this will give us time to develop regenerative therapies for the disease. Dr. Barrett’s team in England and my team in the US are planning […]

There are no treatments for the vast majority of rare diseases, including Wolfram syndrome. Our NIH is trying change this. National Center for Advancing Translational Sciences has established a program to accelerate the drug development process for rare diseases. I am trying to be part of it to help our patients. http://www.ncats.nih.gov/research/rare-diseases/trnd/trnd.html Thank you for […]

We are developing the social network for the Wolfram syndrome community with the Snow Foundation. I always think about three things: 1. Improve clinical care2. Raise awareness3. Provide a cure The social network will help us achieve all of these. Recently, a new patient organization has been created for patients in Italy. Federica is leading this initiative. Because […]

I was reading a blog written by Lauren, one of our Wolfram syndrome patients, yesterday. After I read it, I felt calm and serene. I was exchanging email with Anne Harkin, Vice President of Operations of the Snow Foundation. Anne is a compassionate and wonderful person who has been raising awareness of Wolfram syndrome with […]

I always feel that it is my privilege to see patients with Wolfram syndrome, develop treatment to stop their disease progression, and establish a regenerative therapy program for them. During the Wolfram syndrome workshop in Paris, two patients from Italy visited Paris to see me. We met at the hotel lobby and talked about various […]

I am working with the Snow Foundation to create a social network just for the Wolfram syndrome community. The new website will provide a place for the Wolfram syndrome community to share questions, tips, ideas, experiences, encouragement, and HOPE. If you have any ideas or questions, please send me email to “urano@dom.wustl.edu”. We would like to help […]

President Obama announced that he would like to support the precision medicine to decrease human suffering. I was really encouraged by the news because this is exactly what I am planning to do for patients with Wolfram syndrome and juvenile-onset diabetes. So what is “PRECISION MEDICINE”? Precision Medicine is a concept for designing personalized treatments through […]

My trip to Paris was successful. I gave 4 presentations at the Wolfram syndrome workshop and had productive meetings. I did my best to lead the group with Dr. Tim Barrett in England. I will keep on moving forward to help our patients. Thank you so much for your continued support. Take care, Fumi Urano

I am in Paris to attend the Wolfram syndrome workshop in Paris. I had dinner with Dr. Barrett in England, Stephanie Snow Gebel, and Dr. Saad Naseer, a new CEO of the Snow Foundation. We had a productive discussion. I feel that we are getting closer to clinical trials. The workshop will start in an […]

I have just arrived at Paris to attend the 5th Wolfram syndrome workshop . This is my 5th time, which means I have attended all of these workshops. This is always the most important meeting for me, and this year’s one is even more important because the success of this workshop may lead to the realization of […]

We are getting closer and closer to bring stem-cell based therapies to our patients. I had an interesting discussion with one of our team members, Dr. Stephen Stone, who is a pediatric endocrinology fellow.  He said, “We need a regenerative endocrinologist to bring new therapies to our patients.” I agree with you, Dr. Stone! Thank […]

When I was a child, I wanted to be a doctor helping patients in many different countries. I read the biography of Dr. Albert Schweitzer many times. I loved the idea of doctors without borders. Although I am currently licensed to practice medicine just in two countries, USA and Japan, I would like to get […]

As I mentioned before, I will visit National Center for Advancing Translational Sciences (NCATS), National Institutes of Health in April to establish a three-way collaboration between my team, NIH, and patient organizations. In short, we may be able to develop novel treatments for Wolfram syndrome together with NIH. So this is very important for us. […]

Dr. Dennis Slamon is a renowned physician scientist who developed a revolutionary cancer drug, Herceptin. His research transformed the field of cancer research and helped many patients with breast cancer. His concept, targeting a specific receptor to stop the tumor growth, is widely used in developing treatments for different types of cancer now. I recently learned […]

I have been invited to visit NIH to discuss our drug development strategy for Wolfram syndrome. This is an opportunity for us to make a difference in the future of our patients. NIH is now facilitating a three-way collaboration, a physician-scientist like myself, patient organizations, and National Center for Advancing Translational Sciences to develop treatments for rare diseases. […]

I always appreciate supports from my colleagues at Washington University, Dr. Barrett’s team in England, my collaborators in Europe, Japan, and South America. So what does keep me going? OUR PATIENTS. I think about them every single day. They are supporting my team’s efforts, and the driving force for developing novel treatments for Wolfram syndrome. TEAM […]

My 2 minute-pitch on the development of novel treatments for Wolfram syndrome was perceived well by the judges. I have been notified that I can advance to the next step. Thank you again for your encouragement and support. A cure for Wolfram can potentially lead to a cure for diabetes and neurodegeneration. I will keep on moving forward. […]

To develop novel treatment for chronic diseases, including Wolfram syndrome and diabetes, I feel that I need to develop a strong collaboration with engineers and surgeons. For example, we may be able to develop genetically-modified neural progenitor cells that are resistant to ER stress. We may need to put these cells into a device and transplant […]

I was quite encouraged by President Obama’s State of Union Address. He emphasized the importance personalized medicine based on gene-based diagnostics. This is exactly what I am aiming at, and we need this to provide a cure for human chronic disorders, including Wolfram syndrome. http://www.fiercebiotech.com/story/obama-puts-personalized-medicine-spotlight-primetime-pitch/2015-01-21 I am working on gene-based diagnostics for atypical diabetes patients. Please […]

I was reading an article on the three-dimensional human neural cell culture model developed by a group of Harvard Medical School. They could replicate Alzheimer’s disease using this model in combination with neural progenitor cells derived from iPS cells of patients with Alzheimer’s disease. We can potentially replicate this using neural progenitor cells derived from iPS cells […]

I was reading an article on the three-dimensional human neural cell culture model developed by a group of Harvard Medical School. They could replicate Alzheimer’s disease using this model in combination with neural progenitor cells derived from iPS cells of patients with Alzheimer’s disease. We can potentially replicate this using neural progenitor cells derived from iPS cells […]

I presented a 2 minute-pitch on the development of therapeutics for Wolfram syndrome yesterday. I did my best and had no regret. Stephanie Snow Gebel, Chairman of the Board of the Snow Foundation, attended my session. I really appreciated her support. There were six judges in front of me. I tried my best. 50 people presented […]

As I mentioned before, I got a chance to present my work on the development of therapeutics for Wolfram syndrome in front of potential investors. This is supported by Washington University. Today around 3 pm, I will present a pitch in front of judges. I only have 2 MINUTES. It seems like more than 50 […]

I was interviewed by ABC news on my work on Wolfram syndrome and partnership with the Snow Foundation. Once this is aired, this will be a great opportunity for us to raise awareness of Wolfram syndrome. During the interview, they asked me about NIH’s efforts on developing treatments for rare diseases. NIH is actively working […]

I would like to speed up our progress. We are racing against time. If we can develop treatment for Wolfram, this can be applied to other disorders related to endoplasmic reticulum dysfunction including major forms of diabetes and neurodegenerative diseases. I will keep on evangelizing my idea. In the next several weeks, I will give […]

I always feel that we need to establish tight collaboration with pharmaceutical companies/biotechs to bring our new therapy and new therapeutic modality to our patients. They have expertise in making a crude drug into a real drug and going through the regulatory processes. I have spoken to many medical and scientific officers in industry to […]

I appreciate my teams’ multiple efforts to develop novel treatment for Wolfram syndrome. A dose-escalation study for dantrolene is ongoing. We are developing AAV-based gene therapy, new drug screening methods, genome-editing-based therapy, and stem-cell therapy. At the same time, I need to secure funds for clinical trials. For each effort, there are obstacles, but I […]

What is AAV? AAV stands for adeno-associated virus. We have started using this type of virus. Why? Interestingly, AAV infects humans, but does not cause any disease. So doctors have started using this virus for gene therapy. We can create AAV expressing a gene of our interest, including MANF and WFS1. My idea is to […]

As I mentioned in my yesterday’s blog, I have three things always on my mind, and one of them is to develop novel treatment for Wolfram syndrome. I would like to develop three different types of treatment, drugs, biologics, and stem cell-based therapy combined with DNA editing. To identify and develop drugs, we need drug screening […]