The session featured two scientific presentations offering fresh insights into how VPS13 proteins and their relatives function at the cellular level.

Professor Shigekazu Nagata from the University of Osaka presented unpublished research on VPS13A mutations, examining how ten different genetic changes affect the protein's behaviour.

Dr. Will Prinz from the University of Texas Southwestern Medical Center shared his lab's work on BLTP2 (Bridge-like lipid-transfer protein), a protein structurally similar to VPS13. While not directly linked to VPS13A disease, BLTP2 research illuminates the shared principles behind these lipid-transport proteins.

You can read the details in the full report available on our website: https://naadvocacy.org/wp-content/uploads/2026/02/REPORT-24th-VPS13-Forum-26-Jan-2026.pdf

The forum also included important advocacy updates from Joy Willard-Williford, who shared that the community raised over $72,000 in memory of her husband Mark to support research. She reminded attendees of two vital ways patients can contribute: brain donation for research and blood donation for XK patients. Joy also encouraged everyone to amplify awareness on Rare Disease Day (28 February) by sharing posts from advocacies’ social media channels.