Author: urano

I read the news about the NIH’s initiative for supporting rare disease research. NIH will fund physician scientists at 22 consortia to investigate new treatments for patients with rare diseases. This is great news. NIH funds consortia to study more than 200 rare diseases To be part of it, we need to develop a common […]

What is “allele”? An allele is an alternative form of a gene that is located at a specific position on a specific chromosome. We have two alleles for each trait. Wolfram syndrome is an autosomal recessive disease. This means most patients have two pathogenic alleles. We have recently found patients who only have one pathogenic […]

One of our current options for the development of new therapeutics for Wolfram syndrome is “drug repurposing.” What is “drug repurposing”? Drug repurposing is the application of known drugs to new diseases. We can save a lot of money and time with this approach. Dr. Freda Lewis-Hall, Chief Medical Officer at Pfizer, discusses this strategy […]

The Jack and JT Snow Research Foundation has been helping us raise awareness and develop therapeutics for Wolfram syndrome. Recently, the Snow Foundation created a nice cartoon summarizing the potential manifestations of Wolfram syndrome. This is helpful and I am grateful for their sincere and continued efforts.The Snow Foundation I hope you will have a […]

My mentor, Dr. Aldo Rossini, often told me about “upstream” and “downstream” in medicine. “Upstream” means our efforts on developing new treatment for our patients. Downstream means our efforts on managing our patients. Both are important, and I keep on doing my my best for both. Thank you for reading this blog. I hope you […]

I am always impressed by our patients. Many of them are always positive although they are facing the major challenge. I learn from them and grow with them. I am trying to help them. In reality, they help me keep on going and encourage me all the time. To achieve a cure, we need to […]

We are looking for disease modifying loci for Wolfram syndrome to identify new drug targets. What are disease modifying loci? These are the genes that may play a role in delaying or accelerating the progression of the disease. In addition to WFS1 or WFS2, it seems like there are genes affecting the manifestations of the […]

I received several questions related to my blog of September 26, 2014. Soluable Factors How can we utilize MANF, a natural soluble factor produced in our body, to protect and proliferate remaining beta cells and neurons? The key is to understand how MANF simulates the proliferation and enhances the function of remaining tissues. It seems […]

I keep on figuring out how to delay the progression and provide a cure for patients with Wolfram syndrome. In parallel, I keep on thinking about how we can improve the quality of life of our patients. One of the possibilities is to create a platform where patients can share their experiences. There are multiple […]

Currently we are focusing on manipulating cellular calcium (ER calcium) homeostasis using small molecules (i.e., drugs) to delay the progression of Wolfram syndrome. In addition, I want to take another strategy, which is to alleviate cell stress using chemical chaperones. Chemical chaperones are small molecules that can reduce ER stress by stabilizing defective cellular proteins. […]

Based on emails and phone calls from patients and their families, I am focusing my energy on the following three things. If we had these three, what would happen to us? Am I in the right direction? 1. Compassionate physicians who know how to manage the conditions.2. Drugs that can stop the progression.3. Therapies replacing […]

In Wolfram syndrome, some cells are sensitive to the loss of function of Wolfram gene. These are insulin-producing pancreatic beta cells, some brain cells, and some eye cells. Why are these cells are sensitive? This is the key to provide a cure for Wolfram syndrome. If we know why these cells are sensitive, we can […]

Dr. Roger Perlmutter joined Merck just 18 months ago and has significantly improved the company’s record of getting drugs through the FDA. Why? I think we should learn from his success. He focuses on the most important thing that they can do and that will have the biggest benefit for patients. “The Biggest Benefit for […]

I have been testing the possibility that existing drugs for other disorders may be beneficial for Wolfram syndrome patients. This is called “drug repurposing.” This is not an crazy idea. For example, avastin which is licensed to treat various cancers is beneficial for patients with age-related macular degeneration (AMD) and diabetic retinopathy. Until we develop […]

The charity road trip 2014 in aid of Wolfram syndrome UK was successful! They have delivered the last of the information packs to the Hospital of Sick children Edinburgh. http://wolframsyndrome.co.uk/ Thank you again, Jennifer, Tracy and Paul Lynch, Alan Nye, and their team. I could feel your PASSION and HOPE. I am very proud of […]

The charity road trip 2014 in aid of Wolfram syndrome UK has started. For WS UK’s National Awareness Campaign, Paul Lynch and Alan Nye are personally delivering Important Medical Information to all 25 Major Children’s Hospitals in the UK in less than 60 hours. Thank you for your efforts, Jennifer, Tracy and Paul Lynch, Alan […]

I am trying to bring our new therapies to patients. As you can imagine, there are multiple steps to achieve it. Our medical center has the Institute for Clinical and Translational Sciences and they have been helping us make this happen. Our institute is supported by NIH. The institute is led by Dr. Bradley Evanoff […]

A new article on a stem cell-based therapy for diabetes has been just published. With this method, we can make insulin-producing cells in 15 days. This is incredible. http://www.ncbi.nlm.nih.gov/pubmed/25211370 In Type 1 Diabetes, we still need to find a way to avoid autoimmunity. In Wolfram syndrome, we need to modify the WFS1 gene locus in […]

I had a productive conversation with an executive director of Missouri Cures, a non-profit organization promoting stem cell research in Missouri. I had a chance to explain our strategy to provide a cure for Wolfram using induced pluripotent stem cells derived from skin cells of patients. They will help us raise awareness of Wolfram and […]

A revolutionary surgery was performed last week by Dr. Masayo Takahashi’s group in Kobe, Japan. Dr. Takahashi’s team created retinal cells using skin cells of a patient with macular degeneration and transplanted them back to the patient.http://the-japan-news.com/news/article/0001564776 Here is a summary of their new therapy to restore vision1. Collect skin cells from a patient.2. Create […]

Mr. Kip Branch is traveling in England. He is the founder of the Worldwide Society of the Wolfram Syndrome Families. He met our collaborator, Dr. Tim Barrett, yesterday. He has been helping us raise awareness Wolfram syndrome. Thank you for your sincere efforts, Kip.http://www.didmoad.org/

http://vimeo.com/82103685 Patient support groups have been helping us a lot. The Worldwide Society of Wolfram syndrome was established by Mr. Robert Birkinshaw. It was taken over by Mr. Kip Branch and Mrs. Pat Gibilisco is currently running the program. The Jack and JT Snow Foundation and The Ellie White Foundation have been helping our team’s […]

World’s 1st iPS transplant was just performed. We should follow their path. I will tell you more about this tomorrow. Thank you for reading this. I hope you will have a wonderful weekend. Take care, Fumi

I am always interested in a new therapy, especially non-invasive ones. My good friend at the medical center, Dr. Phil Cuculich, developed a new therapy for atrial fibrillation, a common heart disease, that can potentially cause a stroke. His new therapy and a patient he saved were reported in the Fox News recently. The patient […]

I feel that this week is going to be a great one. Many good things happened yesterday. Lasker Medical Research Award Winners were announced yesterday, and two of the recipients were ER stress researchers! This was great news in the field of ER stress! I sent them emails right away, and they responded to me […]

I am optimistic because I see possibilities. We have FDA-approved drugs, new drugs, stem-cell therapies, and genome-editing therapies. When I came to Washington University Medical Center two years ago, none of these existed. So I have reasons to be optimistic. Thank you for reading this blog. I hope you will have a wonderful week. I […]

In Wolfram syndrome, insulin-producing beta cells in the pancreas and brain cells selectively degenerate. Why? We extensively studied their skin cells and lymphocytes, and did not find any problems although these cells have impaired WFS1 functions. I always think that this mysterious finding will eventually lead to a cure for Wolfram. If we understand why […]

My interview will be published in “Resident Note” soon. This is a Japanese journal for young physicians. I talked about my career path and explained why I started working on Wolfram syndrome. I was reading a draft prepared by editors of the journal and realized that it was not an accident that I came to […]

I think about two S’s all the time, Small molecules (i.e., drugs) and Stem cell-based therapy. In Wolfram syndrome, there is imbalance of calcium levels between two cellular compartments. It seems like that brain cells and insulin-producing beta cells are sensitive to misregulated calcium homeostasis. Using small molecules, I would like to tip the balance […]

I think about what I can do for patients with Wolfram syndrome every day. A cure for Wolfram can lead to a cure for diabetes, I believe. I am visualizing the world with: 1. Compassionate physicians who know how to manage the conditions.2. Drugs that can stop the progression.3. Therapies replacing the damaged tissues. Thank […]

I thought a lot about how to create HOPE for patients suffering from Wolfram and other rare conditions during the Labor day weekend. If I were a patient, what would I want? These are the three things that I came up with. 1. Compassionate physicians who know how to manage the conditions.2. Drugs that can […]

I was surprised and glad to see that our patient and friend, Alejandro, was doing an ice bucket challenge for Wolfram syndrome. Thank you again, Ale and the team Alejandro! I often get questions about “regenerative medicine.” I really like the following video created by the Mayo Clinic. “Regenerate” is the opposite of “degenerate.” Because […]

I was watching the video that our friend and patient, Alejandro, was doing an ice bucket challenge. This project originally started for ALS. So I was checking the ALS-related websites and found the following youtube video. As most of you know, ALS (amyotrophic lateral sclerosis) is a neurodegenerative disease, leading to the progressive degeneration of […]

I talked about stem cell-based therapy yesterday. In parallel, we are seeking a way to increase the proliferation of remaining insulin-producing cells (i.e., pancreatic beta cells) and eye cells. Is it possible? Growing evidence indicates that adult human beta cells can proliferate under certain conditions. The challenge is that adult human beta cells have very […]

I receive a few hundred emails from patients with Wolfram syndrome and diabetes every week. As I mentioned in my previous blogs, I respond to every single email. It is my privilege to work for you. So please feel free to contact me. I was grateful yesterday. I had a few meetings, and I could […]

I am very grateful today. We will officially work with Dr. Gil Leibowitz at Hadassah Medical Center in Jerusalem on Wolfram syndrome, and this will be funded by the US-Israel Binational Science Foundation in the next four years. We will develop and test a new treatment for Wolfram syndrome. Dr. Leibowitz is my long-term collaborator. […]

I  have realized that I always think about two things, Small molecules for Wolfram syndrome treatment and Stem cell therapeutics for Wolfram syndrome. I call it SWSW. We are looking for small molecules (i.e., drugs) that can stop the progression of Wolfram syndrome. We have made significant progress in the last 6 months. My team […]

Today I would like to begin by thanking everyone who has been reading my blogs. I checked the statistics function of my blogs yesterday and found something unexpected. Several thousand people read my blogs every week! Why? I don’t know, but I was so moved and surprised. I am so glad that many people are […]

We are looking for small molecules for developing novel therapeutics for Wolfram syndrome. What is a small molecule? A small molecule is a low molecular weight chemical compound that may help regulate a biological process. So a small molecule almost means a drug. Some drugs are not small molecules. We have several small molecules that […]

We have created many induced pluripotent stem cells (iPS cells) from skin cells of Wolfram syndrome patients. Because these cells can be differentiated into any types of cells, including brain cells, eye cells, and insulin-producing pancreatic cells, we can use these cells to replace damaged tissues in our patients in the future. In addition to […]

I have read many articles related to Wolfram syndrome. The most-read article is entitled “Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome” describing the natural history of Wolfram syndrome. This article was written by Timothy Barrett, MB, BS (MD), PhD in 1995. PubMed I read this paper over and over when I started […]