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 […]