Finding a Cure: New Research on the Ashkenazi Variant
Learn more about ongoing research projects related to the Ashkenazi Jewish variant, and how to contribute to finding a cure. The following is a list of current research led by WashU Medicine. If you would like to make a donation to support this research, you may do so below.
Study 1a: Gene Editing in Patient Stem Cells
Status: Funded – $250,000
This study is using gene editing tools to try to fix the specific WFS1 gene mutation found in people with the Ashkenazi Jewish form of Wolfram Syndrome. Scientists are testing these tools in stem cells made from patient samples to see how well they can correct the mutation and whether the method works safely and accurately in the lab.
Study 1b: Testing Gene Editing in Mice
Funding needed – $500,000
This study will test the gene editing therapy in mice that carry the same WFS1 gene mutation found in Ashkenazi Jewish Wolfram Syndrome. The goal is to see if the treatment works in a living organism—not just in the lab—and to check how safe and effective it is over time.
Study 2: Genetic Screening for Early Detection
Funding needed – $300,000
This study will launch a pilot screening program for about 10,000 people of Ashkenazi Jewish descent. Participants will receive cheek swab kits, and the WFS1 gene variant linked to Wolfram Syndrome will be added to existing genetic tests. The goal is to identify carriers and at-risk individuals early, before symptoms begin.
Study 3a: Searching for New Medications
Funding needed – $400,000
This study will test thousands of small molecules to find ones that help stabilize the WFS1 gene variant linked to Ashkenazi Jewish Wolfram Syndrome. Using stem cells from patients, researchers will look for compounds that reduce cell stress, improve insulin production, and protect nerve and eye cells.
Study 3b: Designing Targeted Drugs and Testing Combinations
Funding needed – $500,000
This study will use computer modeling to design drugs that help the faulty WFS1 protein fold and function correctly. Researchers will also test how well these new compounds work alone or when combined with existing treatments, like GLP-1 receptor agonists and AMX0035, to find the most effective options for this specific gene variant.
Scan the QR code or click here to donate to ongoing research initiatives by WashU Medicine, including the projects listed above.
For more information about research or funding opportunities, please contact Rachel Hartmann at Washington University in St. Louis.: rachel_hartmann@wustl.edu