Every day is Rare Disease Day, Wolfram syndrome day
February 28th is Rare Disease Day, and Every day is Rare Disease Day, Wolfram syndrome day, for me. I keep on doing my best to provide the best clinical care, raise awareness, and develop safe and effective treatments for patients with Wolfram syndrome. Let’s work as one team and make a difference together. Fumi Urano
National Women Physicians Day 2022
February 3rd was National Women Physicians Day! Hats off to all the women physicians, including my mom, a compassionate pediatrician/internist who sent my brother, and me to medical school after my dad passed away. She is our hero, best doctor, and best mom in the world. She encouraged me to keep on working on Wolfram […]
Therapeutic development – Regenerative Gene Therapy for Optic Nerve Atrophy
My strategy is to stop/delay the progression of Wolfram syndrome using oral medications and restore functions of retinal ganglion cells, brain cells, and insulin-producing cells by regenerative gene therapy. Our first target is vision. We have been trying to improve visual acuity using viral vectors expressing a healthy Wolfram gene (WFS1) and a regenerative factor called […]
Wolfram syndrome is often misdiagnosed as Type 1 diabetes
Wolfram syndrome is often misdiagnosed as Type 1 diabetes. Patients with early-onset diabetes mellitus who are negative for islet autoantibodies and lean may have syndromic monogenic diabetes. Monogenic diabetes genetic testing, including WFS1 gene, should be considered for such patients (https://www.sciencedirect.com/science/article/pii/S2376060522000013?via%3Dihub).
WFS1/Wolfram-like – Hattersley-Urano subtype
As you know, we all have two copies of the Wolfram syndrome 1 (WFS1) gene, one from our mother and one from our father. Patients with Wolfram syndrome have two mutated copies of the WFS1 gene, and their parents have one mutated copy and one normal copy. They are carriers. Dr. Hattersley and I identified […]
A mild form of Wolfram syndrome in the Ashkenazi Jewish population – WFS1 p.Arg558Cys
We recently identified a WFS1 gene variant associated with a mild form of Wolfram syndrome in the Ashkenazi Jewish population. This WFS1 gene variant, WFS1 c.1672C>T (p.Arg558Cys) is prevalent in the Jewish population, and 1/30 Jewish people are carriers. We have deposited the data to the public database (https://www.biorxiv.org/content/10.1101/2021.11.07.467657v1). I have been extensively studying this […]
Therapeutic development – oral medication
In the past, I looked for existing drugs that could be beneficial for patients with Wolfram syndrome. This effort led to a few clinical trials, but a repurposed drug could be just a band-aid for Wolfram, and we need a new medication for Wolfram syndrome. I have been focusing my efforts on developing a new […]
Experiencing the Patient’s Experience
I saw an adult patient with Wolfram syndrome in my WFS1 clinic a few weeks ago as usual. She flew in just like other patients, but she was a little different from others. Although she had low vision, she came to my clinic with a white cane by herself. Most of my patients with low […]
Privileged and Honored
I saw multiple patients with Wolfram syndrome from different states in the past few weeks. They flew in to see me in my WFS1 clinic during the Omicron surge. I felt so privileged and honored to see them as a doctor. I often see patients with Wolfram and WFS1-related disorders who even come from abroad. […]
Research Progress, December 2021
December 3, 2021 Dear All, I hope you and your family are doing well. We live in a time of tumult. Many are wary of all the negativity, but I am incredibly positive and energetic and committed to making a difference. Our lab is 100% functional, and we are making steady progress. Here is a […]
Updates – an upcoming trial
May 30, 2021 Dear All, Hello everyone. I pray you’re in great spirits. Everyone in my research team has been vaccinated for COVID-19, and we are working very hard to develop novel treatments for Wolfram syndrome. Although our past has been harsh, our future looks brilliant now. I continue adhering to my three guiding principles: […]
A rare and amazing opportunity
As many of you are aware, Science Magazine featured my basic, translational, and clinical research on Wolfram syndrome. The article covers the history of Wolfram syndrome and its research. https://www.sciencemag.org/news/2021/02/race-treat-rare-fatal-syndrome-may-help-others-common-disorders-diabetes https://science.sciencemag.org/content/371/6530/663 This is a rare and amazing opportunity for us to raise awareness of Wolfram syndrome. Science initially interviewed me on endoplasmic reticulum stress (ER […]