An insight into the various aspects of RVCL-S research worldwide during the first international RVCL-S meeting; from fruitfly models to clinical studies, and from MRI to functional ultrasound; an example of important translational research toward a better understanding of the disease.🧐
Last month, we hosted the first international RVCL-S meeting in Leiden, bringing together researchers from across the globe to discuss this rare hereditary disease. The event, held at the Hortus botanicus Leiden , centered on translational research. In the morning, discussions focused on the pathophysiology and potential therapeutic targets, while the afternoon highlighted clinical studies.
We were honored to hear from leading researchers such as Dr. Chantal Alkhoury (France), who discussed her cellular research, Dr. Elena Gracheva (Washington), who presented on fruitfly models (Drosophila), Prof. David Hunt (UK), who talked about DNA damage and the use of the UK biobank, and Dr. Marcel Woo (Germany), who highlighted the role of type 2 interferon.
Two pre-clinical researchers from Leiden also presented; Chelsey Linnenbank shared insights on her mouse models and the use of functional ultrasound for brain imaging, while Vasiliki Gkouzioti discussed human induced pluripotent stem cells for RVCL-S research
After a lovely lunch and a brief walk through the beautiful gardens of the Hortus, led by Else Tolner Prof. Mickaël Tanter (France), gave a lecture on the developments in functional ultrasound for brain imaging. He explained the potential role for pre-clinical and clinical research.
During the clinical part of the day; Dr. Dominique Hervé (France) shared a clinical case and Dr. Andria Ford (Washington) presented about brain MRI findings in RVCL-S patients as a promising biomarker. Most researchers are looking for the potential biomarker which can bring us closer to a treatment for this invalidating disease. Irene de Boer from Leiden told us about the importance of these biomarkers and which (combinations of) biomarkers might be interesting. Annelise Wilms closed the day with a talk about our natural history study (FORT) and the goal of this study.
The day concluded with engaging discussions and plans for future collaborations. Overall, it was an insightful day where we learned a lot from each other. Not only were the major successes shared, but also the challenges of studying such a rare disease were openly discussed. This was a significant step towards accelerating research and hopefully the first of many inspirational international meetings!
For more information about our research, see our website RVCL-S Research and follow our LinkedIn page (1) RVCLS Research Leiden: overzicht | LinkedIn
