Draft:Snow Foundation for Wolfram Syndrome Research

The Snow Foundation for Wolfram Syndrome Research is an International 501(c)(3) non-profit organization that Stephanie Gebel and J.T. Snow founded.: Based in St. Louis, Missouri, it was launched in 2010 to free the world from Wolfram Syndrome. It aims to achieve this goal by investing in Wolfram syndrome research. The Snow Foundation also provides critical programs and services that directly improve the lives of patients and their families. Key individuals of the foundation include Stephanie Gebel, Saad Naseer MD, J.T. Snow, Pat Gibilisco, Robert W. Haggerty CPA, and Sarah Gladstone MD.

Wolfram Syndrome (WS) is an autosomal recessive genetic disorder; syndrome variants include WS1, WS2, and WFS1-related disorders. WS is considered a neurodegenerative disease that leads to vision loss, hearing loss, diabetes mellitus, and diabetes insipidus. WS can also lead to psychological and behavioral issues, loss of senses of smell and taste, problems with balance and coordination, muscle spasms and seizures, urinary and gastrointestinal problems, and irregular breathing. Wolfram syndrome affects more than 30,000 people worldwide, and over 60% of these individuals die before age 40.

History

In 2010, five-year-old Raquel Gebel, daughter of Stephanie and Barclay Gebel, was diagnosed with Wolfram syndrome. There were no foundations or associations representing this disease, nor drug therapies or cures to treat it. Virtually no clinical research was being undertaken. Stephanie established The Snow Foundation to fill in these critical gaps. The foundation hosts annual fundraising events and awareness campaigns from its St. Louis, Missouri, headquarters. A Board of Directors governs it, and a Scientific Advisory Board guides its scientific initiatives.

Since its founding, the Snow Foundation has expanded its mission. It is leading a global movement of patients, families, doctors, and researchers who work together to improve the lives of everyone affected by Wolfram syndrome. The Snow Foundation is currently the largest independent supporter of research on Wolfram syndrome worldwide. They are crucial in advancing global collaborative research efforts on this disease. By funding this critical research, it is possible that other innovative therapies for treating diabetes, vision loss, hearing loss, and neurodegeneration could also be identified.

Mission

The Snow Foundation is a collective voice for Wolfram syndrome patients, working towards a cure for Wolfram syndrome and developing novel therapies for diabetes, vision loss, hearing loss, and neurodegeneration.

The Snow Foundation has three strategic guiding pillars:

1. Accelerate research into effective treatments for Wolfram syndrome and its various symptoms.
2. Connect people affected by Wolfram syndrome with the information and resources they need to live a life of meaning and impact.
3. Mobilize the Wolfram syndrome community to generate resources to maximize progress and impact.

Research Funding

The Snow Foundation has funded over $1,750,000.00 to researchers and scientists studying Wolfram syndrome at leading institutions, including:

• Columbia University Irving Medical Center, USA
• San Raffaele Hospital/CNR-Institute of Neuroscience, Italy
• The University of Queensland, Australia
• Universite de Montpellier, France
• University of Birmingham, UK
• University of Tartu, Estonia
• Washington University School of Medicine, USA

Funded research areas include:

• Advancing understanding of the genetic mechanisms behind Wolfram syndrome
• Investigating links between Wolfram syndrome and neurodegenerative diseases like Alzheimer's, Parkinson's and Amyotrophic Lateral Sclerosis (ALS)
• Identifying and validating biomarkers to monitor disease progression
• Developing cell and animal models of the disease
• Testing potential therapeutic compounds
• Investigating treatments
• Conducting clinical trials

The foundation is currently funding seven research projects across six global institutions. It raises funds through donations, grants, and partnerships with individuals, corporations, and other WS associations. The foundation's Medical and Scientific Advisory Board is composed of leading doctors and Wolfram syndrome researchers, including

• Sarah J. Gladstone, MD
• Patrick Yu-Wai-Man, MD, PhD
• Louis Philipson, MD, PhD
• Dr. Tamara Hershey
• Dr. Timothy G. Barrett
• Fumihiko Urano, MD

Community

The Snow Foundation and the National Organization of Rare Disorders, Inc. (NORD) have collaborated to establish the first-ever patient-owned WS Global Patient Registry. The Snow Foundation is responsible for creating and co-maintaining the Wolfram Syndrome Global Support Group on Facebook and promoting Wolfram Syndrome Global Awareness Day on October 1st every year. It also collaborates with Wolfram Syndrome UK in hosting the Annual International Research Symposiums held in the UK. Over 35 top researchers and scientists attend these meetings to advance medical knowledge, improve patient care, and develop new treatments and therapies for Wolfram syndrome patients.

See also

• Wolfram Syndrome
• WFS1 Wolframin protein
• National Organization for Rare Disorders, NORD

External Links

• Official Website
• Wolfram Syndrome UK
• Wolfram Syndrome Research Alliance, (WSRA)
• Wolfram Syndrome Global Patient Registry
• Wolfram Syndrome Global Support Group on Facebook
• Wolfram Syndrome Global Awareness Day
• National Organization of Rare Disorders, Inc. (NORD)