Sandra Martins is an Assistant Researcher at i3S (FCT-CEECIND program) mainly focused on (1) the evolution of highly conserved paralogs of genes responsible for spinocerebellar ataxias, (2) the identification of genetic modifiers in neurological diseases, and (3) the genetic epidemiology of repeat-expansion diseases. 

She dedicated her PhD to the mutational history of Machado-Joseph disease by analyzing haplotype backgrounds of MJD families from 20 populations spread through the 5 continents (Univ Porto, 2007; supervisors: A. Amorim- IPATIMUP, J. Sequeiros- IBMC, F. Calafell- Univ Pompeu Fabra). Following her doctoral thesis, S. Martins was awarded with two FCT Individual Postdoctoral grants (FCT calls 2006 and 2011) to study the mechanisms of de novo expansions and mutational processes of instability in repeat-associated disorders, in collaboration with G.A. Rouleau, at the Centre d'Excellence en Neuromique, Univ Montréal. In 2014, she became an Assistant Researcher (through the FCT Investigator Programme, Starting Grant IF/00930/2013) and completed an unbiased approach to identify the first set of GWAS loci associated to MJD age-at-onset. More recently, she started a new research line combining evolutionary and functional analyses to assess the role of proteins belonging to the deubiquitinating MJD class as potential modifiers of MJD (PI in three projects, one ongoing). S. Martins was the main supervisor of 8 MSc theses and is currently the main supervisor of a PhD thesis titled "Hereditary cerebellar ataxias: gene evolution, causal variants and disease mechanisms" (D. Felício; MCBiology Program; ICBAS, FCUP, i3S; Univ Porto). S. Martins has been lecturing “Molecular Diagnostics” in the Master of Cell and Molecular Biology (FCUP) since 2011 as Invited Professor. S. Martins published 3 book chapters and 32 papers in peer reviewed international journals, 11 as first author and 6 as senior author (h-index 15; 578 citations).