Where Ideas Grow
Sandra Martins
Associate Researcher
Sandra Martins is a researcher at IPATIMUP/i3S (FCT Investigator Programme) focused (1) on the genetic epidemiology of spinocerebellar ataxias, (2) on the search for genetic modifiers on MJD clinical presentation, and (3) on the evolution of highly conserved paralogs of genes responsible for ataxia. She dedicated her PhD to the mutational history of MJD by analyzing haplotype backgrounds of affected families from 20 different populations spread through the 5 continents (2007, University of Porto; supervisors: A. Amorim, IPATIMUP; J. Sequeiros, IBMC). In her post-doc, other important insights have been provided into the mechanisms of de novo expansions and mutational processes of intergenerational instability in MJD as well as in other repeat-associated disorders (collaboration: G.A. Rouleau, University of Montreal). S. Martins has supervised several Master theses and has lectured the subject "Molecular Diagnosis" in the Master of Cell and Molecular Biology, for the last four years, at Faculty of Sciences (University of Porto), as Invited Professor. She has published 16 peer-reviewed papers (8 as first and one as senior author), with about 130 citations and an h-index of 8. Currently, she is the principal investigator of the FCT exploratory project "Modifiers of Machado-Joseph disease: study of ataxin-3 like and josephin domain containing proteins".