Wednesday, May 7, 2025

---

Overview

Chair: Associate Professor Patricia Maciel

---

Details

Dr. Patrícia Maciel obtained a B.Sc. in Biochemistry (1993) and a Ph.D. in Biomedical Sciences - Genetics (1998) at the University of Porto, Portugal. Her doctoral studies included an initial training period at the Hôpital Necker-Enfants Malades, Paris, France, and four years at the Centre for Research in Neuroscience, McGill University, Montreal, Canada. Dr. Maciel is currently an Associate Professor of Biochemistry and Genetics at the School of Medicine and Director at the Health and Life Sciences Research Institute of the University of Minho – Braga, Portugal, where she develops works in the field of Neurogenetics, addressing molecular mechanisms of neuronal function and dysfunction, in connection to human neurodegenerative and neurodevelopmental diseases. Her major scientific contributions have been towards the mapping and cloning of the spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) causative gene, the study of genotype-phenotype correlations in this and other inherited neurological diseases, the identification of the normal cellular function of the protein ataxin-3 and its potential links to pathogenesis, as well as the development of transgenic mouse and C. elegans models of SCA3/MJD, useful for therapeutic drug discovery and development. This has led to an interest in studying specific cellular processes such as protein regulation by the ubiquitin-proteasome system in the nervous system. Recently, the Maciel team has contributed actively to the identification of drugs with important therapeutic effects in animal models of SCA3/MJD, through candidate testing and unbiased screening approaches.