Research Progress – October 4, 2022

Research Progress – October 4, 2022
Upcoming clinical trials We need new treatments and therapeutic modalities for Wolfram syndrome, including oral and injectable medications for optic nerve atrophy and neurological issues. I have been focusing my efforts on developing a new drug, AMX0035, to treat Wolfram syndrome in collaboration with Amylyx Pharmaceuticals in Cambridge, Massachusetts, USA. AMX0035 targets endoplasmic reticulum stress […]

Wolfram UK

I gave a talk for the Wolfram UK conference virtually last week. I updated the audience about our therapeutic development for Wolfram syndrome. The talk is now available via youtube. https://www.youtube.com/watch?v=pUyLPpwOM8Y Fumi URANO, MD, PhD

Gene Therapy Updates- Prime Editing

Gene Therapy Updates- Prime Editing
I have some exciting updates on our gene therapy development. The root cause of Wolfram syndrome is pathogenic changes in the WFS1 gene. Therefore, correcting these changes in the WFS1 gene is the best way to treat Wolfram syndrome. We initially used the original CRISPR-Cas9 gene editing technology and then used a newer technology, base […]

Every day is Rare Disease Day, Wolfram syndrome day

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

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

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

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

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

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

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. […]