TSF would like to thank the Duncan and Flexer Families for their unwavering support. Organizing fundraisers is challenging, but their dedication is exemplary. Their support is vital to our mission. We also thank McCarthy Building Companies for its annual fishing tournaments, which generate funds and raise awareness. We are grateful.
Duncan Family: Fishing for Ford Gala and Fishing Tournament Flexer Family: Fighting for Flexer Family Bingo Night Facebook Family Fundraisers: Birthdays & Rare Disease Day McCarthy Construction: Fishing Tournament, Honoring Alex Bieser In Honor of Wolfram Warriors: Facebook Fundraisers, General Donations
In Memory of: Let us remember and honor our beloved Wolfram Warriors, who courageously fought but lost their battle in 2025. Their bravery and spirit will always inspire us and remain in our hearts.
We are pleased to welcome Mr. Michael Wallace to The Snow Foundation Team. Michael’s journey with The Snow Foundation is truly heartfelt. As a former senior content producer at Children’s Hospital Los Angeles, he loved sharing patient stories that helped raise funds and awareness. During his executive MBA, Michael learned about Wolfram syndrome through the story of his friend and WS patient, Tera Zegoni. Although Tera eventually lost her battle with the condition, her inspiring legacy motivated Michael to team up with The Snow Foundation. He brings his storytelling talents to help spread awareness and support their important mission to find a cure. Michael has extensive experience working with patients and their families.
http://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svg00The Snow Foundationhttp://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svgThe Snow Foundation2026-02-19 20:37:032026-02-19 20:37:55Welcome Michael Wallace to The Snow Foundation
We are pleased to welcome Emily Kohler, who will assist with the Wolfram syndrome Global Facebook administration and assume some of the responsibilities previously held by Pat Gibilisco. She is 27 years old and from Media, Pennsylvania. Emily was diagnosed with Wolfram syndrome on December 20, 2021, at the age of 23. Although the past few years have presented challenges, she is actively learning to manage and adapt to her circumstances. Ever since she first suspected she had Wolfram syndrome, she’s found a deep sense of purpose in living with it, hoping to make a positive impact and assist others. She looks forward to supporting others and continuing the legacy established by Pat Gibilisco.
Pat will be stepping down from the role of Patient Administrator. We appreciate all the dedication and hard work Pat has shown during her time in this position. Pat, a pioneering figure in the Wolfram syndrome community, was the Co-Founder of the first Wolfram Syndrome Website and Family Support Group. This initiative, which she launched in 1998 when her 12-year-old daughter, Lauren, was diagnosed with Wolfram syndrome, was a beacon of hope for many. Pat’s proactive approach led her to contact Dr. Timothy Barrett, the only physician specializing in this disease at the time. With Dr. Barrett’s help, she was connected to other Wolfram families, including Rob Birkinshaw, the Co-founder of the first WS Website. Pat contacted the late Dr. Alan Permutt in 2000, who discovered the WFS1 gene. Dr. Alan Permutt conducted the first Wolfram syndrome research clinic in 2010, which included Lauren and six other patients.
Pat has been the Snow Foundation’s Patient Administrator and Wolfram syndrome Facebook page admin for over four years. She has always been passionate about educating and supporting patients, families, and caregivers, providing valuable resources and connecting them with others affected by this rare disease. Her commitment has helped grow the advocacy community to over 500 families worldwide.
Since her daughter Lauren sadly passed away from Wolfram syndrome in 2021, Pat became an even more passionate advocate for Wolfram syndrome. Our community truly couldn’t have asked for a more caring and dedicated champion than our wonderful momma bear, Pat! We will deeply miss her presence in our daily lives, but we are so grateful that she will continue to serve as a board member. If you want to contact Pat, please email her at pat@thesnowfoundation.org.
We’re excited to announce the launch of Wolfram Rising, a private peer-led Facebook support group for young people (ages 15–30) living with Wolfram Syndrome. This group is a safe, welcoming space where you can be yourself, connect with others who truly understand what you’re going through, and share experiences, laughter, and support. Our young WS community will lead the group, bringing their rich lived experiences to every conversation. A heartfelt thank you to Emily Bejerano, Emily Kohler, and Tom Darley for managing the page and warmly welcoming our community.
http://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svg00The Snow Foundationhttp://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svgThe Snow Foundation2026-02-19 20:24:212026-02-19 20:26:04Wolfram Rising Facebook Group for Young Adults
Principal Investigator Dr.Benjamin Delprat, Montpellier, France
With help from the WS patient community and a special shout-out to our dear friend Nufar, a list of 30 widely available and potentially therapeutic compounds was compiled to be evaluated for the potential treatment of WS.
We are completing negotiations to test these compounds individually and in combination in a WS zebrafish model.
We aim to determine the most effective and accessible compounds that may serve as a treatment “cocktail” to aid in slowing the progression of symptoms in WS.
http://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svg00The Snow Foundationhttp://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svgThe Snow Foundation2026-02-19 20:06:572026-02-19 20:06:57Zebrafish Screen of compounds for individual or combination treatment of WS
Principal Investigators Dr. Lucas Fernandez Brillet, and GemaEsteban Bueno, MD, Barcelona, Spain
Broad categories of neurodegenerative findings in WS have been proposed and established through prior work done by WS researchers.
This project, proposed by Dr. Lucas Brillet, aims to determine in more detail the areas of the brain that are affected in WS, and to stratify these results with respect to different WFS1 mutations.
This project will help us better understand the natural history of WS, and better understand mutation-specific symptoms that may be amenable to different types of treatment to slow progression.
Principal Investigator Dr. Mariana Igoillo-Esteve, Co-Investigator Ane Olazagoitia-Garmendia, Brussels, Belgium
New potential WFS1 interactors were discovered by Dr. Igoillo-Esteve in 2025.
This work aims to validate the new interactome data obtained in 2025, uncover the molecular pathways in which they are involved, and characterize their roles in cellular function, ER stress, and survival.
Following this interactome identification, this project will prioritize and test compounds targeting the most relevant pathways identified.
This project aims to:
Uncover cellular mechanisms that result in Wolfram syndrome by identifying molecular functions of WFS1
Pave the way for innovative therapeutic strategies.
http://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svg00The Snow Foundationhttp://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svgThe Snow Foundation2026-02-19 19:48:462026-02-19 19:48:46Mapping the WFS1 Interactome in Wolfram Syndrome: From Mechanisms to Therapeutic Leads
Principal Investigator Dr. Samagya Banskota, Boston, USA
This project will attempt to make gene editing available to all WS patients who have a variant that involves a single base pair change (missense variant). Over 60% of people with WS with documented genotypes may benefit from this strategy.
This approach is important because a single attempt at gene editing for WS, right now, will only treat one patient/variant at a time.
This work by Dr. Banksota will attempt to create a “Platform” approach in which the basic gene-editing “machinery” will be the same, only the specific variant to be corrected will differ. In this way, the same drug/treatment could be used for over 60% of people with WS, regardless of their many different variants.
Such a platform approach will save many millions of dollars in drug development costs and many years of drug development time.
This project is very timely, given the gene editing preclinical data being generated now and in the near future by Drs. Urano, Banskota, and De Groef. If successful, this platform library will open the door to applying this same technique to all WS patients with missense variants concurrently in a potential gene editing/base editing clinical trial for WS.
http://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svg00The Snow Foundationhttp://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svgThe Snow Foundation2026-02-19 19:45:232026-02-19 19:45:39Development of a High-Throughput Sensor Library to Correct Over 60% of Known Pathogenic Variants in WS
TSF would like to thank the Duncan and Flexer Families for their unwavering support. Organizing fundraisers is challenging, but their dedication is exemplary. Their support is vital to our mission. We also thank McCarthy Building Companies for its annual fishing tournaments, which generate funds and raise awareness. We are grateful.
You must be logged in to post a comment.