Together with your support and the generosity of the donors who have believed in our mission since our inception, the Cohen Syndrome Research Foundation has selected three research projects to receive more than $320,000 in funding over the next two years.
Funding will be distributed following completion of institutional grant agreements with each recipient institution.
Berrak Uğur, PhD (Yale University School of Medicine)
This project will investigate how the VPS13B protein (the protein affected in Cohen syndrome) functions in brain and retinal cells. Using advanced laboratory models that closely mimic human tissue, the researchers aim to better understand how changes in VPS13B lead to the neurological and vision challenges experienced by people with Cohen syndrome. Their findings may help identify future therapeutic targets.
Muhammad Ansar, PhD (University of Lausanne, Switzerland) and Sarah Clark, PhD (Oregon State University)
This project will reveal the three-dimensional structure of the VPS13B protein complex (the group of proteins that work together with the protein affected in Cohen syndrome). Understanding its structure will provide important insights into how VPS13B normally functions and how it is disrupted in Cohen Syndrome, helping guide the development of future treatments.
Muhammad Ansar, PhD (University of Lausanne, Switzerland) and Binnaz Yalcin, PhD (Institut NeuroMyoGene, INSERM U1315, Lyon, France)
This project will test promising treatment approaches in a mouse model of Cohen Syndrome and identify measurable biological markers to show whether a therapy is working. These biomarkers are an important step toward preparing potential treatments for future clinical trials.