HELP US MAKE A LASTING DIFFERENCE FOR THE PREVENTATIVE TREATMENTS FOR SCA6

In loving memory of Jon and his wish to support ongoing research on preventative treatments for Ataxia

Jon was diagnosed with Spinocerebellar ataxia type 6 (SCA6) at the age of 50. Jon pursued the path of learning more about this rare neurodegenerative disease after knowing the impact it had on his family history, becoming a caregiver for his father and the future for his children. In pursuit of knowledge Jon encountered Dr. Gomez, was excited with the work he was doing and progress he was making.  He soon was involved in studies, network groups and wanted to help make a difference.

Although Jon was not symptomatic, the positive diagnosis of this disease ultimately helped led to the discovery of his Glioblastoma in January 2024. Jon's positive attitude and deep love for his family and friends kept him fighting far beyond what doctors had imagined, and he will be deeply missed.

About:

Spinocerebellar ataxia type 6 (SCA6) is a rare neurodegenerative disease with symptoms that can mimic alcohol intoxication—slurred speech, stumbling, falling, and incoordination. There is no cure, and current drugs only partially treat symptoms. SCA6 is a genetic condition, passing directly from generation to generation. Each child of a person with SCA6 has a 50 percent chance of inheriting the gene that causes SCA6. Symptoms typically develop midlife, and living with SCA6 is debilitating.

Christopher M. Gomez, MD, PhD, at the University of Chicago Medicine is an expert on SCA6. He is the only researcher in the country investigating the cause and trying to discover preventative treatments for SCA6.

Philanthropic support of the Gomez Laboratory:

Philanthropy helps to cover the costs of essential laboratory supplies and equipment, like stem cell lines, antibodies and assays, and mouse models.

• Stem cell lines are like cellular versions of a human and can develop into various types of cells, including neurons. Dr. Gomez’s lab uses stem cell lines to test methods of turning off specific genes.
• The Gomez lab develops antibodies and assays that enable identification and measurement of proteins associated with SCA6 in the spinal fluid, indicating whether the treatment is working before any changes in symptoms become noticeable.
• Mice have many genetic and anatomical similarities with humans, and researchers can manipulate their genes to mimic almost any human disease. Dr. Gomez’s team tests their treatment approaches using mice engineered to carry the SCA6 mutation. This testing phase is essential for determining that the treatment is safe and effective in a living organism—a necessary step in advancing toward human trials.

Thank you

Philanthropic donations enable Dr. Gomez’s ability to complete vital investigations and make discoveries that could revolutionize treatment and prevention for SCA6. We are grateful to all who consider support of this critical work

ONGOING FUNDRAISING GOAL: $20,000

If you would like to mail a check, please make it payable to "University of Chicago Medicine" and send to the following address:

University of Chicago Gift Administration 
Vanessa Schalkle - H&H
5235 S. Harper Court, 4th Floor
Chicago, IL 60615