This session focused on clinical updates across VPS13A and XK research, alongside news from the advocacies. As the report notes, “The focus was on clinical updates and the presentations were about genetics of VPS13A disease in Puerto Rico, dual genetic findings and gene therapies in movement disorders.”

Advocacy Updates

Ginger, Joy and Despina shared the latest news from NA Advocacy and NA Advocacy USA. The groups gave an overview of their Rare Disease Day activities, updates on NA News, and expressed the gratitude for donors and fundraisers. Joy announced a new research grant awarded to the Icahn School of Medicine. The new members of the Research Advisory Committee were also announced. Ginger closed with a joyful update from Scotland, where long-standing supporter Sheila Averbuch raised over £1,300 through their open garden event.

Scientific Presentations

Genetics of VPS13A Disease in Puerto Rico

Dr Laura Surillo‑Dahdah presented new findings from 17 Puerto Rican patients, revealing multiple founder mutations and a newly identified deletion in exon 27. Her work suggests VPS13A disease may be under‑recognised in Puerto Rico, with diagnosis often significantly delayed. Raising awareness could lead to earlier diagnosis, better care, and appropriate genetic counselling for families.

Dual Genetic Findings: VPS13A and JPH3

Dr Dayany Leonel Boone discussed a complex case involving both a pathogenic VPS13A mutation and an intermediate JPH3 expansion. While the JPH3 expansion is not disease‑causing, the overlap in affected brain regions raises important questions for future interpretation of multi‑gene results.

Gene Therapies in Movement Disorders

Dr Christopher D. Stephen provided an accessible overview of gene therapy approaches. He emphasised that while gene therapy has progressed in ataxias, significant groundwork is still needed for VPS13A and XK, noting challenges such as gene sizes, limited pathophysiological understanding, or no validated biomarkers. XK, being a smaller gene, may be more amenable to future gene‑replacement strategies. Gene therapy is a promising long-term avenue, but a lot more foundational work is needed before it can be applied to VPS13A and XK diseases. 

The 27th VPS13 Forum was held on 27 July 2026 and we're working on bringing you the report about the "Current directions in Bridge-Like Lipid Transfer Protein (BLTP) research" soon. The next Forum will be held on 26 October 2026 and we'll confirm the topic nearer the time. In the meantime, check our reports from previous Forums: https://naadvocacy.org/research-forum/.