Determination of pathomechanisms and assessment of therapeutic strategies for Cohen Syndrome in patient derived cells and a murine model

Project Description

Cohen Syndrome (CS) is a rare genetic disease caused by the loss of function of the gene called VPS13B. Individuals with CS suffer from developmental, intellectual, motor, metabolic, immunologic and progressive vision loss problems. In this project we proposed to study and understand how the VPS13B gene functions and how the loss of this gene causes the disease symptoms. At the same time we’ll try to explore and test various treatment options by using cellular and mouse models, with the aim to ultimately find the cure for the CS disease or to at least stop the progressive loss of vision in these patients. Treatment strategies include the use of chemical drugs as well as gene therapy.