Mariana Santos is a junior researcher at IBMC/i3S, supported by a six-year contract from FCT. Her current research covers the genetics and pathophysiology of hereditary cerebellar ataxias and spastic paraplegias. Mariana has a BSc in Pathologic Anatomy, an MSc in Molecular and Cellular Biology, and a PhD in Biomedical Sciences. FCT provided support for her PhD at the University of Aveiro, which focused on the characterization of the cellular and molecular mechanisms underlying DYT1 dystonia. In 2015, she joined the UnIGENe group at IBMC/i3S as a post-doctoral fellow under a cooperative Portugal/France project (supported by FCT and ANR). In 2017, she was awarded a post-doctoral fellowship from FCT to work at IBMC/i3S and the UK Dementia Research Institute, UCL. Her work focused on identifying new causal genes and variants in hereditary cerebellar ataxias and dissecting their functions using cellular models. Mariana has actively contributed to numerous projects as a team member and has written grant proposals. She was the principal investigator of an Ataxia UK grant that uncovered new molecular mechanisms underlying spinocerebellar ataxia type 11 (SCA11) using CRISPR-Cas9 cellular models. She is now leading a project on hereditary spastic paraplegias, under the program PESSOA 2023-2024 to promote collaboration with researchers at the Bordeaux Neurocampus. Mariana has published 26 papers in peer-reviewed journals, of which she is the first author in nine, the senior author in two, and the corresponding author in four. She has also published 20 abstracts in conference proceedings. Throughout her career, she has supervised or collaborated in the supervision of students and research fellows. Currently, she is the co-supervisor of two PhD students. Additionally, she had taught practical classes and organized scientific meetings and dissemination activities; regularly gives seminars; participates as a jury for MSc and PhD theses and reviews papers for several journals.