If you read our news regularly, these grants will not be entirely unfamiliar to you. These research projects have already delivered valuable insights and services to our community. Although very different in nature, we were delighted to spot some cross-collaboration between the research teams, too.

Mapping VPS13A Signalling Pathways @ University of Verona, Italy

We are renewing our support for Professor Lucia De Franceschi and her team at the University of Verona, who are investigating how VPS13A loss disrupts key signalling pathways in the brain. As her application notes, “much still remains to be investigated on the interactors of VPS13A.”

This is building on earlier findings and the anticipated outcome is a clear picture of the signalling networks most affected by VPS13A loss, a possible foundation for future therapeutic strategies.

Western Blot Testing @ University Medical Center Rostock, Germany

We are also renewing support for Dr Kevin Peikert and his team in Rostock. His lab is the only one in the world to perform the Western blot test.

The test can be requested, conducted and interpreted only under scientific conditions. It provides support to the clinicians and researching colleagues looking to understand if they are to diagnose either of the neuroacanthocytosis (NA) syndromes, VPS13A disease or XK disease.

Part of the funds for this award come from the Open Garden fundraiser organised by Sheila Averbuch, our long-time friend and supporter. The grant provides the funds for the materials needed to perform the Western blot tests by the lab in Rostock, continuing the work of its dedicated predecessors.

We are delighted to continue to fund these interesting projects and we look forward to sharing more about the outcomes as they become available.