Dear Friends, With Rare Disease Day approaching, I want to take a moment to recognize the incredible strength of the Wolfram syndrome community. The increasing number of patients referred to us highlights the urgency of our work in developing effective treatments. Every day, I receive messages from patients and families looking for updates, which reinforces […]
Author: urano
Rare Disease Center at Washington University
The Rare Disease Day Symposium at Washington University was a great success, and it was exciting to see the official launch of the Center for Rare Diseases. I have so much respect for Dr. Patricia Dickson and her team for making this happen, and I’m grateful for the opportunity to be part of the center […]
International Wolfram Syndrome Symposium 2024
Collaboration has always been at the heart of my approach to Wolfram syndrome research. It is collaboration, not competition, that drives us closer to our mission of achieving a cure for this devastating disease. Since 2010, I have actively participated in and helped organize the International Wolfram Syndrome Symposium. Our 9th symposium took place in […]
Uncovering a Milder Wolfram Syndrome Variant in Jewish Populations (Part 4)
For context, Parts 1 , 2, and 3 of this series can be found here: Part 1: https://wolframsyndrome.wustl.edu/uncovering-a-milder-wolfram-syndrome-variant-in-jewish-populations-part-1/ Part 2: https://wolframsyndrome.wustl.edu/uncovering-a-milder-wolfram-syndrome-variant-in-jewish-populations-part-2/ Part 3: https://wolframsyndrome.wustl.edu/uncovering-a-milder-wolfram-syndrome-variant-in-jewish-populations-part-3/ We have identified a mild form of Wolfram syndrome in Jewish populations, linked to the pathogenic WFS1 variant, WFS1 c.1672C>T (Arg558Cys). My impression is that many Jewish patients with atypical diabetes and/or optic […]
Uncovering a Milder Wolfram Syndrome Variant in Jewish Populations (Part 3)
For context, Parts 1 and 2 of this series can be found here: Part 1: https://wolframsyndrome.wustl.edu/uncovering-a-milder-wolfram-syndrome-variant-in-jewish-populations-part-1/ Part 2: https://wolframsyndrome.wustl.edu/uncovering-a-milder-wolfram-syndrome-variant-in-jewish-populations-part-2/ In Parts 1 and 2, I discussed our discovery of a milder form of Wolfram syndrome prevalent in Jewish populations, particularly among individuals of Ashkenazi descent. This variation is linked to a specific WFS1 gene variant: […]
Uncovering a Milder Wolfram Syndrome Variant in Jewish Populations (Part 2)
For context, you can find Part 1 here: https://wolframsyndrome.wustl.edu/uncovering-a-milder-wolfram-syndrome-variant-in-jewish-populations-part-1/ As I described in Part 1, our research has identified a milder variant of Wolfram syndrome predominantly observed in Jewish populations, particularly among individuals of Ashkenazi Jewish descent. But what exactly do I mean by “mild”? This term refers to a delayed onset of diabetes and […]
Uncovering a Milder Wolfram Syndrome Variant in Jewish Populations (Part 1)
Recently, I have been receiving questions about a milder form of Wolfram syndrome that is more common in the Ashkenazi Jewish population. To address these inquiries and share insights, I’ve decided to write a series of blogs dedicated to this topic. Over the years, through my research and clinical experience, I have come to understand […]
Progress in the Past 15 Years of Wolfram Syndrome Research
October 14, 2024 Dear friends and colleagues, In 2009, at the inaugural International Wolfram Syndrome Symposium in Paris, France, organized by the Association du Syndrome de Wolfram under the leadership of President Nolwen Le Floch (see attached picture taken in 2009!), we established ten key goals: Thanks to the remarkable efforts of patient advocacy groups, […]
Research Updates, September 2024
September 13, 2024 Dear Friends, As the number of patients referred to us continues to grow, our team feels an increasing urgency to develop safe and effective treatments for Wolfram syndrome. Every day, I receive numerous emails from patients and families inquiring about our research progress, reflecting the growing hope and anticipation within our community. […]
Wolfram Syndrome Presentation
I recently delivered a presentation on Wolfram syndrome, discussing interim results from our ongoing trial and outlining our future trial plans. You can view my talk on YouTube. Thank you for your ongoing support.
Rare Disease Day at NIH 2024
I’m excited to share some fantastic news with you. I’ve received an invitation to present our research on Wolfram Syndrome at the Rare Disease Day event held at the National Institutes of Health on February 29, 2024. This event is widely regarded as one of the most prestigious gatherings for rare diseases, offering an excellent […]
Rare Disease Podcast
I had an interview for the Rare Disease Podcast in December. You can listen or watch it by clicking on the link below: Rare Disease Podcast Interview
Wolfram Syndrome Documentary – PBS
The Wolfram syndrome documentary, which features Ms. Ellie White, was broadcast on PBS last year. It is now available for viewing on YouTube. I feel privileged to have been involved in this documentary, and I encourage you to watch it and share the link with your friends to help raise awareness about Wolfram syndrome.
Our achievements in Wolfram syndrome research over the past year, in 2023
Dear Friends, I hope you enjoyed a wonderful holiday season. I want to take a moment to express my deep gratitude for your unwavering belief in and support of our mission to find a cure for Wolfram syndrome. Your enduring encouragement has been a beacon of hope guiding us on this remarkable journey. As we […]
Wolfram Syndrome UK Conference 2023
I am thrilled to share my experience attending the Wolfram Syndrome UK conference 2023, which was held on September 30, 2023, to honor the Global Wolfram Syndrome Day on October 1st. It was a wonderful opportunity to present our therapeutic developments and ongoing and future clinical trial plans for Wolfram syndrome, and I was delighted […]
Therapeutic development – Progress Report
September 7, 2023 Dear Friends, Thank you so much for continually believing in and supporting me and our therapeutic development for Wolfram syndrome. I deeply appreciate it. Your encouragement has been such a driving force in our journey. Excitingly, we’re making significant strides in our therapeutic development for Wolfram syndrome. Ongoing clinical trial In collaboration […]
The Power of Hope: Lessons from Patients with Wolfram Syndrome
Recently, I saw two patients with Wolfram syndrome from Central America. Despite facing a debilitating disease, they had an inspiring positive attitude and gave me two wooden glasses, expressing their faith in me to find an effective treatment soon. This experience reminded me of the importance of hope and optimism in healthcare and how our […]
Highlights from the 8th International Wolfram Syndrome Symposium: Hope on the Horizon
The 8th International Wolfram Syndrome Symposium in London was a significant event for researchers and clinicians focused on this rare genetic disorder. The symposium fostered new collaborations and showcased the latest findings in Wolfram Syndrome research. We express our sincere appreciation to Stephanie Snow Gebel and Saad Naseer, MD, from the Snow Foundation, as well […]
United for a Cure: The International Wolfram Syndrome Symposium in London
The International Wolfram Syndrome Symposium begins tonight in London, bringing together 25 experts, including physicians, scientists, industry partners, and patient advocacy representatives, to explore cutting-edge treatments and strategies for this rare disease. Discussions will focus on enhancing patient outcomes, engaging the medical community, and advocating for public policy changes. Stay tuned, as I’ll be providing […]
A Ray of Hope: a girl of Israel
At our WFS1 clinic, we have the privilege of meeting extraordinary individuals who inspire and motivate us to push the boundaries of our Wolfram research. Today, I would like to share the story of a remarkable young girl from Israel who visited our clinic, leaving an indelible mark on our hearts and minds. Her courage, […]
First dose
We are excited to report that the Phase 2 Clinical Trial of AMX0035 for the Treatment of Wolfram Syndrome has commenced, with the first participant already dosed earlier this week. This marks our second clinical trial for Wolfram Syndrome, and we are incredibly grateful for the unwavering support from our patients, their families, and the […]
The Heartwarming Spirit of a Young Soccer Fan: A Glimpse into the Life of a 10-Year-Old with WFS1-Related Disorder
Last week, our clinical research unit welcomed a 10-year-old boy with WFS1-related disorder and his parents, who kindly donated their biological samples to support our research. The boy’s passion for soccer and life touched our hearts, and we want to share this heartwarming experience. The boy arrived wearing a Manchester City jersey, sparking conversation about […]
Upcoming clinical trials
There is an urgent need for new treatments and therapeutic approaches for Wolfram syndrome, including both oral and injectable medications. A promising strategy involves targeting upstream disease mechanisms to delay the progression of symptoms associated with Wolfram syndrome, such as optic nerve atrophy, neurodegeneration, and diabetes, through the use of oral medication. In pursuit of […]
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
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
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 […]
Updates on Therapeutic Development
February 6, 2021 Dear Friends, I wish and pray that 2021 is a year of splendid health and big success for you. Despite all the uncertainty, troubles, and challenges on our planet, I have focused my mind and efforts on helping and saving our patients with Wolfram syndrome and WFS1-related disorders. I have been adhering […]
Therapeutic Development Pipelines and Timeline
Dear Friends, First of all, I want to express my gratitude for everything you’ve helped me achieve here. Your kind words and encouragement keep me motivated and inspired. My three guiding principles are: Improve clinical care, Raise awareness, and Provide a cutting-edge treatment for Wolfram syndrome. Here is our progress: A Drug-Repurposing Clinical Trial Our […]
Continue working as one team
Dear Friends, Thank you for visiting our Wolfram Syndrome website. I hope you and your family are safe, strong, and healthy on a brighter future. I have no doubt better days are ahead, and we can rise about this crisis. Many of you have asked me if I need to assist with COVID-19 research or […]
My deepest and sincere gratitude to you
Dear Friends, Today, I would like to show my gratitude to you. I have received hundreds of emails in the past few days regarding our recent advances in regenerative gene therapy for Wolfram Syndrome that could lead to breakthrough therapy not only for Wolfram Syndrome but also for retinal degeneration, diabetes, and neurodegenerative disorders. All […]
Toward personalized regenerative gene therapy for Wolfram syndrome
Dear Friends, I hope you and your family are safe and well during this COVID-19 pandemic. Three things are always on my mind: Improve clinical care, Raise awareness, and Provide a cutting-edge treatment for Wolfram syndrome. As I mentioned on January 1st, I am determined to make 2020 the game-changing year for us despite this […]
Rare Disease Day 2020
Dear Friends, Happy Rare Disease Day. Thank you for your emails and messages in the past few days. I appreciate you shared your feelings with me and encouraged me regarding our therapeutic development for Wolfram syndrome. As I mentioned in my blog on January 1, 2020, I am determined to make 2020 the game-changing year […]
Bringing regenerative therapies to patients
We have been developing drug-based therapies to delay/stop the progression of Wolfram Syndrome, and we have made significant progress. In parallel, we need to develop regenerative therapies to treat/replace damaged tissues. We have two pipelines for the regenerative therapies. 1. Stem cell-based therapies.This requires collaboration with surgeons and bioengineers. We are working on this.2. Regeneration […]
Goals for 2020: One Team
Dear Friends, Happy New Year. Thank you for your email, letters, and messages in the past few weeks. I appreciated your encouragement. I am determined to make 2020 the game-changing year for us. Three things are always on my mind: Improve clinical care, Raise awareness, and Provide a cutting-edge treatment for Wolfram syndrome. I have […]
Thank you for your support. Our progress in 2019.
Dear Friends, As the year 2019 is coming to an end, I would like to summarize our progress this year. Tomorrow, I would like to tell you my plan for 2020. We have been focusing our efforts on the development of regenerative and gene therapy. We successfully created the adeno-associated virus (AAV) that can deliver […]
Trial updates and gene therapy
Thank you for your continued support and encouragement. I would like to update you about our progress on the therapeutic development for Wolfram syndrome. Our clinical trial of dantrolene sodium for adult and pediatric patients with Wolfram syndrome has been going well. Based on the results of dantrolene trial, I feel confident that counteracting ER […]
Thank you, Wolfram UK!
I attended the Wolfram Syndrome UK annual conference on September 28, 2019. I started attending this important conference in 2014. Now I know many patients and families in the UK. This conference is special for me because I have a chance to discuss challenges patients and families have face to face. This year was also […]
Thank you everyone for the Wolfram Research Clinic and Conference
Dear Friends, This year’s Wolfram research clinic was successful again. The community conference hosted by the Snow Foundation was a big success too. I would like to thank all the participants, families, and staff for the research clinic and community conference. Please feel free to contact me if you have any questions regarding the genetic […]