Author: urano

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 […]

I have three things always on my mind. 1. A cure for Wolfram syndrome 2. Provide better clinical care for Wolfram syndrome 3. Raise awareness of Wolfram syndrome To me, these three are the same, and I am doing my best to contribute to each component. For #1, I have three ideas. #1. Drugs (chemical compounds) #2. Biologics #3. […]

I’ve got 2 MINUTES to present my idea about the development of treatment for Wolfram syndrome in front of potential funders. If I win, I may get some funds for developing treatment and conducting clinical trials. So this is important. It will happen on January 21st. I only have 2 minutes, but this may change the future […]

I learned about another interesting clinical trial at the regenerative therapy group meeting last week.http://www.cirm.ca.gov/our-progress/awards/progenitor-cells-secreting-gdnf-treatment-als In this clinical trial, scientists transplant neural progenitor cells expressing GNDF to patients with ALS, an incurable neurodegenerative disorder. What is GDNF? GDNF is a neurotrophic factor like MANF and promotes the growth of neural cells. They expect that neural […]

I attended the regenerative therapy group meeting on Friday and learned about the stem cell-based therapy for ALS, an incurable neurodegenerative disease. Clinical trials using this therapy are ongoing and at the Phase 2 stage. Our regulatory system is designed to test drugs for common diseases, not for rare diseases. We should think about this together. I […]

I was looking at the list of drugs approved by FDA in 2014. I wanted to learn from successful cases. Most of the approved drugs were sponsored by big pharmas, but many of the drugs for rare diseases were sponsored by small biotechs. If we want to bring a new innovative drug to our patients with […]

Do we know the challenges that patients and their families are facing? I feel that I only know the tip of the iceberg. I may know their symptoms and some underlying mechanisms, but I realized yesterday that I knew very little about their emotional and personal challenges. I thought I knew, but I realized I […]

Why do we need to study the mechanisms of Wolfram syndrome and develop treatment? For me, the answer is simple. They are our friends on this planet and suffering from multiple symptoms. Just like each of us, he/she is different from each and a unique creature. So we need to help them. We help each […]

So many people have been helping us raise awareness of Wolfram syndrome. I have three things always on my mind. 1. A CURE FOR WOLFRAM SYNDROME that can lead to a CURE FOR DIABETES 2. Provide BETTER CLINICAL CARE  for Wolfram syndrome 3. Raise AWARENESS of Wolfram syndrome Now we are international. A Japanese movie production company is […]

In the US, FDA approved 41 new drugs last year (I said 44 drugs on 12/20/2014, but it was not correct. I apologize.) In Europe, the European Medicines Agency recommended 82 new medicines last year. In the US, 40% of newly approved drugs are indicated for rare diseases. I feel that more people are interested […]

We have a few candidate drugs for delaying the progression of Wolfram syndrome. What needs to be done to move forward? Here are my plans. 1. Dose-escalation studies in human and mouse cell models of Wolfram syndrome: monitor calpain 2 activation and cell death2. Dose-escalation studies in animal models of Wolfram syndrome, both in brain-specific […]

 have received many questions related to dantrolene for treating patients with Wolfram syndrome and diabetes. We are still gathering evidence. Here is the summary. 1. Dantrolene could normalize cytosolic calcium levels in a beta cell line and a neuronal cell line deficient in WFS1 gene (cell models of Wolfram syndrome).2. Dantrolene could prevent hyper activation […]

Our PNAS article showed the mechanisms of neuronal and beta cell death in Wolfram syndrome. We discovered the following three phenomena in Wolfram syndrome. 1. Increased cytoplasmic calcium levels (decreased endoplasmic reticulum calcium levels)2. Hyper-activation of calpain 2 due to the increased calcium levels3. Increased cell death due to the calpain 2 hyper-activation We discovered that dantrolene […]

Our group as well as a few other groups around the world showed that Wolfram syndrome is associated with endoplasmic reticulum. Endoplasmic reticulum is a cellular compartment executing multiple functions, including the quality control of proteins destined for secretion and calcium storage and release. Our recent discovery strongly suggests that dysregulated calcium storage and release in […]

Happy New Year to all my friends around the world. I thought about what we need to accomplish to achieve a cure for Wolfram syndrome. Here are my goals in 2015. 1. Establish more Wolfram syndrome clinics To improve the quality of life of our patients and know more about the disease, we need to […]

In 2014, I thought about three things every single day. 1. Improve clinical care for patients with Wolfram syndrome2. Develop treatment options for delaying the progression of Wolfram syndrome3. Raise awareness of Wolfram syndrome In addition, I thought about regenerative therapy options for Wolfram syndrome and Type 1 diabetes, and my team conducted preclinical studies on this. I hope we will accomplish […]

So many people help us develop new treatment options for Wolfram syndrome and bring these to our patients. They look at our data, suggest the necessary steps, and help us prepare for presentation slides and documents. They don’t expect the financial returns or fame because Wolfram is an ultra rare disease. I always appreciate their […]

These two websites provide us with useful information regarding the stem cell-based therapies and clinical trials. Our institution is trying to catch up. http://hsci.harvard.edu/ http://www.cirm.ca.gov/our-progress I hope you have a wonderful holiday season. Take care, Fumi Urano

IND stands for Investigational New Drug Application. To bring our new drug to our patients, I need to submit an IND to the FDA. We need to prepare for the following data. If I submit an IND as a physician, this is called a research IND. If a company submits an IND, it is called […]

We need multiple breakthroughs to achieve a cure for Wolfram syndrome. Based on my experience, “screening” often leads to a breakthrough. What do I mean by “screening”? Screening is a strategy used in medical research to identify unexpected drug targets, drugs, or biomarkers. We design a screening strategy, and then conduct screening. This strategy costs money […]

I am very interested in the study conduced at Joslin Diabetes Center and Harvard Medical School in Boston. Their study suggests that some Type 1 diabetic patients may still make insulin even after 50 years of diabetes. It seems like that many patients with Type 1 diabetes still have residual beta cells. These beta cells do […]

In 2014, FDA has approved 44 new drugs for treating rare diseases. This is incredible. More than 40% of newly approved drugs are indicated for rare diseases. I hope that our drug for Wolfram syndrome will be one of them next year. I hope you have a wonderful day. I appreciate your continued support. Take […]

I had an exciting discussion this morning, and I feel so empowered. One of the things I plan to do is to set up genetic screening for all the atypical patients with Type 1 diabetes ( or I should call this Juvenile Diabetes). We may be able to identify patients with Wolfram syndrome and other […]

I was watching this video yesterday. This is a story about Jennifer, a British girl with Wolfram syndrome, and  is extremely moving. I hope you WATCH< this. You will be struck by the huge amount of medical supplies at her house. You will understand her and her family’s CHALLENGES. I met her family in England a […]

One of the challenges I am facing is that there is a gap between our molecular testing and clinical care for patients with Wolfram syndrome. I would like to establish a way to choose the best treatment options for each patient based on molecular testing. I have some idea, but it has not been fully […]

I am very interested in the new technology, ORGANS-ON-CHIPS. This is a tissue culture system and synthesizes minimal functional units that recapitulate organ-level functions. In short, WE CAN CREATE DIFFERENT TYPES OF SMALL ORGANS ON A SMALL PLATE. We can test the efficacy of new drugs using this system. This can potentially eliminate animal experiments […]

One my plans is to develop personalized therapeutics for Wolfram syndrome patients based on gene-based diagnostics. Patients with rare conditions are usually treated based on the experience of physicians, often without any definitive clinical trial support or molecular justification. I would like to change this. Based on molecular justification, I would like to design a […]

As I mentioned before, we have started a new and important initiative, a stem cell and biologics therapy group. Physicians at the Barnes-Jewish Hospital get together and discuss how we transplant/inject stem cell-derived cells and trophic factors/new drugs to our patients. I attended the meeting and felt empowered. When I came back to my office, I […]

We are trying to show the proof of concept for developing novel therapies for Wolfram syndrome. What is a “Proof of Concept”? A proof of concept is a demonstration or verification that our theory has the potential for the real-world application. It our case, we have to show that the modulation of endoplasmic reticulum calcium homeostasis […]

I appreciate the importance of basic research because it provides us with drug targets and new technologies. To achieve a cure for Wolfram and other rare diseases, it is important for us to translate research into clinical practice. For example, we have recently found a drug target and a potential drug for Wolfram syndrome. To bring […]

Here are my slides related to potential drugs for Wolfram syndrome. We are studying FDA-approved compounds currently indicated for other diseases to see if they are safe and effective for treating Wolfram syndrome. In the slide 4, I showed the list of drugs that can potentially delay the progression of Wolfram syndrome. 4 out of 8 are […]

I gave a talk with Stephanie Snow Gebel at the Wolfram UK a week ago. I received several emails asking me to share the presentation. So I am uploading my presentation here. I plan to explain each slide this week. WolframUK_1129_2014_Urano_v3 Thank you for reading this. I have many exciting meetings this week. I am quite […]

Since I took over Dr. Permutt’s program at Washington University two years ago, I have been closely working with the Jack and JT Snow Foundation to raise awareness, improve the clinical care, and develop therapeutics and diagnostics for Wolfram syndrome. Stephanie Snow Gebel, JT Snow, Anne Harkin, and David Bruns, are my close friends and […]

Our current focus is to bring a drug that can potentially delay the progression of the disease to our patients. In parallel, we are developing stem cell-based therapies and a new type of gene therapy. A new type of gene therapy, CRISPR, is getting a lot of attention. We are also utilizing this technology. I […]

If we have doctors that can properly manage manifestations of Wolfram syndrome in each town, If we can easily connect other patients with Wolfram syndrome, If we have treatment options to stop the progression of Wolfram syndrome, If we have treatment options to replace damaged tissues, our patients would be happier, and this world would […]

We clearly need drugs to stop the progression of Wolfram syndrome, so that we have time to develop stem cell-based therapies and gene therapies. Although we have discovered one drug that can potentially delay the progression of the disease, there is no guarantee this drug works. So I am building pipelines for the future. We […]

I woke up during the night, and thought about what I should focus on. 1. Multi-disciplinary clinics (pediatric, transitional, and adult) 2. Stop progression by small molecules (i.e., drugs) 3. Replace or regenerate damaged tissues in combination with genome editing. I am studying the ICH guidelines for #3. I will keep you updated about our […]

What does GMP stand for? GMP stands for “Good Manufacturing Practices.” In short, GMP is a system for ensuring that products are consistently produced and controlled according to quality standard. To bring our stem cell-based therapies to our patients, we need to consistently produce high-quality stem cells from patients’ skin cells. We are working on […]

My visit to the UK was successful and meaningful. Wolfram teams in the UK and US are now connected. Dr. Barrett (Birmingham Children’s Hospital) and Dr. Morrison (Queen Elizabeth Hospital) at the University of Birmingham have created pediatric and adult clinics for Wolfram syndrome and are planning a clinical trial. I learned a lot from […]

I had a chance to participate in the Wolfram UK information day yesterday.It was a great experience. Dr. Barrett provided us with a lot of useful information.I learned a lot about multidisciplinary clinics for Wolfram. In addition to pediatric Wolfram clinic, there are transitional and adult clinics for Wolfram in the UK. I met with […]

Our day 1 at UK was quite fruitful. We left London early in the morning and drove to the University of Birmingham Medical Centre. Paul Lynch and Alan Nye from Wolfram UK picked up my colleague and friend, Stephanie Snow Gebel, and my self in London and drove to Birmingham three hours for us. At […]