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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 […]