In 2020, Dioraphte issued a call for proposals aimed at centres of expertise in rare diseases. Thirteen detailed applications were submitted in response to the call. Five external assessors scored the applications on both scientific merit and on the potential impact on patients, society and the centre of expertise. At the end, the reviewers selected five applications. Among the lucky ones was the neurology group of Gisela Terwindt of Leiden University Medical Centre, with a study on Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic manifestations (RVCL-S).
‘RVCL-S is a rare hereditary disease, which arises due to changes in the TREX1 gene,’ explains neurologist Gisela Terwindt. ‘This leads to a problem with the vessels. It is likely that small blood vessels in multiple locations in the body are damaged. The lining of the blood vessels appears to have an important role in this. The condition can lead to blindness, stroke and dementia, and also affects the liver, kidneys and skin, to name just a few. The aim of this study is to identify the predictive markers for disease progression in RVCL-S and to investigate the underlying mechanism. The sooner you can diagnose the disease, the better you can prevent problems with vision, for example.’
Under Terwindt’s supervision, Irene de Boer is conducting doctoral research into RVCL-S: ‘We are following family members who carry the disease, using the latest techniques in the field of the eye, brain and skin, in which we photograph the small blood vessels. We also study the function of the blood vessel lining and blood clotting. This is done with vessel-on-a-chip techniques, in which we can grow cells from patients into mini blood vessels.’ Twenty-five families with RVCL-S are known worldwide, three of which, are in the Netherlands. One of them already includes four hundred people. Terwindt: ‘Our ultimate goal is to ensure that carriers of this disease can be better identified globally and to find a treatment for RVCL-S using the latest techniques to improve the lives and health of all carriers.’