Scientists with white lab coats are not only working in the laboratory, but also in the university hospital. As researchers with a different perspective, Jonathan and Liedewei from the Baets lab join forces to solve the unsolved.
Jonathan is a clinician working in UZA and regularly sees patients with neuromuscular disorders, that cannot always be linked to already known mutations in disease-causing genes. For these “unsolved” cases, Liedewei conducts a more detailed genetic analysis. She applies advanced bioinformatics tools and uses extensive international databases to identify the molecular cause of the disease. Such bed to benchside research is crucial for solving rare diseases and is the focus of the European Solve-RD project that they are part of.
Last year, they discovered that SPTAN1 can be causative of ataxia and hereditary spastic paraplegia. With this publication, they helped at least 14 families receive their genetic diagnosis.
By Jonathan De Winter and Liedewei Van de Vondel
Laboratory of Neuromuscular Pathology (Baets lab) / Translational Neurosciences