VPS13 forum: to keep the conversation going in pandemic times.
As an international community of clinicians, scientists, and families dealing with chorea-acanthocytosis (VPS13A disease) or McLeod syndrome, respectively, we had enjoyed the highly successful organization by our Spanish colleagues of the 10th NA symposium.
To continue the conversation we have initiated the two-monthly virtual VPS13 forum. The first forum took place on May 3, 2021 focusing on bulk lipid transport as a novel disease mechanism and the WIPI4/WDR45/atg2a molecular complex that appears homologous to the VPS13 proteins and their interactors such as the McLeod protein XK. In the second meeting, we discussed new developments in the field of McLeod syndrome with a special focus on blood banking for autologous donation. At the third forum, our colleagues from the Mount Sinai Brain Bank, New York, USA provided an overview over their neuropathology research project being funded by Neuroacanthocytosis Advocacy, USA.
The fourth forum will deal with patient registries, natural history studies, and patient-driven registries for rare diseases.
FOURTH FORUM - PATIENT REGISTRIES
Monday, November 29th, 2021 from 7-9 pm Central European wintertime
Meeting-ID: 615 6305 2913
1. Care4HD&CS registry - an emerging concept.
Prof. G. Bernhard Landwehrmeyer, University of Ulm, Germany
2. Patient-driven registries and patient-reported outcomes in rare diseases.
Megan O’Boyle, Patient Engagement Lead for RARE-X, USA
RARE-X is a 501(c)(3) rare disease technology nonprofit focused on supporting the acceleration and development of life-altering treatments and future cures for patients impacted by a rare disease. Enabled by best-in-class technology, patients, researchers, and other technology vendors, RARE-X will gather structured, fit-for-purpose data to share broadly, benefitting from 21st-century governance, consent, and federated data-sharing technology. RARE-X is building the largest collaborative patient-driven, open-data access project for rare diseases globally. For more information, visit www.rare-x.org.