The grant, "Integrate metabolomic and interactome mapping in mice genetically lacking chorein (VPS13A mice)" has been renewed for two years, extending from April 2024 to March 2026. We cover €9,500 annually.

This grant supports vital work aimed at understanding the underlying mechanisms of VPS13A disease. Researchers are investigating the role of VPS13A, the protein crucial for cellular function, in the development and progression of the disease.

The research group produced recently a paper which is currently being submitted for publication. We are bound by confidentiality at this point, but once it’s published we will share more about the research progress detailed in the paper, which is supported by the grant we awarded.

The study examines the impact of VPS13A deficiency on skeletal muscle. The research team, led by Professor Lucia De Franceschi, used both mouse models and patient muscle biopsies to investigate the effects of the disease.

We remain committed to supporting research that advances the understanding of the neuroacanthocytosis syndromes and brings hope to affected individuals and families. We congratulate the research team on their progress and look forward to hearing about the published paper.