Recent news

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  The first international RVCL-S meeting was a great success!

  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

  

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  Retinal oxygen saturation in RVCL-S

  Drs. de Boer gave a presentation on oxygen saturation of the retinal blood vessels at the 10th congress of the European Academy of Neurology (EAN). Her research shows that the oxygen saturation of RVCL-S patients is higher in the veins of the retina compared to healthy controls. The difference in oxygen saturation between arteries and veins was smaller in RVCL-S patients. This teaches us more about how retinopathy in RVCL-S can develop.

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  NFL and GFAP in RVCL-S

  Researchers from the LUMC and Amsterdam UMC have published a new article about the biomarkers NFL and GFAP in RVCL-S. They measured the levels of these biomarkers in blood and cerebrospinal fluid and compared them with healthy controls. They found increased NFL values in (pre-)symptomatic RVCL-S patients. They also found an association between NFL and GFAP levels and the patients’ cognitive function. You can read the full article here.

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  RVCL-S patient meeting

  In January the Leiden University Medical Center (LUMC) has organized three online RVCL-S patient meetings. The evenings were a great success! There were several short presentations about the RVCL-S research. There was also an opportunity for patients and family members to ask questions to the doctors and researchers of the LUMC. A short summary of what was discussed during the patient evenings can be found here (Dutch only).

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  Eye abnormalities on OCTA scans in RVCL-S

  Researchers at the LUMC have recently published about abnormalities in the eyes of RVCL-S patients. With OCTA (Optical Coherence Tomography Angiography) scans they evaluated the blood vessels of the retina. They found that their were less blood vessels present in RVCL-S patients compared to healthy controls. Click here for more information!

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  European Stroke Congress

  Researchers of the LUMC have visited the European Stroke Congress (ESOC) in Lyon. They gave a short presentation about their work on RVCL-S. By visiting international congresses they try to increase the awareness of RVCL-S worldwide.

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  Support our research!

  Donate to support RVCL-S research in the LUMC. All help is appreciated and will go towards understanding RVCL-S and finding a treatment. Even small amounts can contribute towards (partially) funding our projects. Moreover, donations are often tax deductible. For more information click here.

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  Review about RVCL-S

  Physicians of the LUMC have published a new review about RVCL-S. They describe the key features of the disorder and the most common complications that can occur. The latest scientific insights abour RVCL-S are also being discussed. The review is published in the scientific paper Cerebral Circulation Cognition and Behaviour. You can read the full review here.

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  New website

  As of today, the new RVCL-S website of the LUMC is live! Information for patients, their relatives and care providers is bundled on this website. You can also find the latest news about the research into RVCL-S here.

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  Irene de Boer received Dekkerbeurs for research into RVCL-S

  Irene de Boer received a Dekkerbeurs from the Dutch Heart Foundation! With this prestigious grant she will continue performing research into RVCL-S.