Link between Type 1 diabetes and Wolfram syndrome
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 […]
A private online Wolfram syndrome community
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 […]
International Wolfram Syndrome Consortium
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 […]
Endoplasmic Reticulum Disease Center 2
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 […]
Has been a long day and I am hopeful
I have been quite busy recently. I have so many things to do every day and need to work 18 hrs per day. So I take a nap during some meetings ( secret!). However, I feel quite hopeful and appreciate what’s happening right now. Three things are always on my mind, Raise Awareness, Improve Clinical […]
Endoplasmic Reticulum Disease Center
I believe that Wolfram syndrome has relatives. I could identify several disorders whose underlying mechanisms are similar to Wolfram syndrome. The common pathway altered in these disorder is “endoplasmic reticulu dysfunction.” I have decided to establish the Endoplasmic Reticulum Disease Center. Through this center, we should be able to find novel treatments for Wolfram syndrome […]
Wolfram syndrome may have relatives
Wolfram syndrome is called an “orphan disease” because it is so rare. However, based on the mechanisms of the disease, Wolfram syndrome may have relatives. I could identify several other rare diseases that are related to Wolfram syndrome. I call them “endoplasmic reticulum disorders.” By studying these other disorders, we may find novel treatments for […]
Raise awareness and foster collaboration
I often travel to give lectures on Wolfram syndrome. I believe this helps us raise awareness and foster collaboration. I have visited universities, hospitals, research institutions, pharmaceutical companies, and conferences all over the world. I think I gave 100 lectures on Wolfram syndrome. One of the most important lectures that I gave was at the […]
Fight against a rare disease with the best science
It is challenging to develop novel treatments for rare diseases including Wolfram syndrome. The best way to overcome this challenge is to fight against it with the very best science. The very best science is our weapon to combat Wolfram syndrome. I always appreciate emails and phone calls from our patients and families. I am […]
The Snow White Fellowship
Recently, the Ellie White Foundation hosted a fundraising event for Wolfram syndrome to raise funds for accelerating the development of drug therapies. The funds will support our Snow White Fellowship in collaboration with the Snow Foundation. I always appreciate supports from the patient organizations all over the world. They work together to accomplish the same goal, […]
Connecting patients around the world
We are trying to connect patients around the world. I feel that this is so important. I saw a patient from Europe who might have Wolfram syndrome the other day. She was intelligent and thoughtful. She was multi-lingual. I could feel that she felt isolated and wanted to do something on this issue. The Snow […]
University of Chicago
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