Liedewei Van de Vondel

Science

I am a PhD Student at the lab of Translational Neurosciences and the Peripheral Neuropathy lab, under the guidance of Prof. Dr. Jonathan Baets and Prof. Dr. Vincent Timmerman. Generally, I aim to elucidate (novel) genetic causes for neurological and neuromuscular diseases, such as ataxia, hereditary spastic paraplegia, peripheral neuropathies such as Charcot-Marie-Tooth disease and hereditary motor neuropathy as well as hereditary myopathies. To this end, I work in a highly collaborative environment with other research groups across Europe and the United States of America, sharing genetic data in international consortia. I actively participate in Solve-RD, a Horizon 2020 EU project set out to elucidate genetic causes of Rare Diseases.

More specifically, my PhD project centers around the SPTAN1 gene, which is remarkable given its extensive phenotypic spectrum. I set out to fully characterise this spectrum as well as elucidate why this single gene can give rise to vastly different neurological diseases, namely epilepsy, intellectual disability, hereditary spastic paraplegia, ataxia and hereditary motor neuropathy.