Sandra Martins
Name: Sandra Martins
Academic Degree: PhD

Sandra Martins
Sandra Martins
Member of
Investigador Auxiliar of Population Genetics

Short CV

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).

Evolution of highly conserved paralogous of genes responsible for ataxia

Search for genetic modifiers on MJD clinical presentation

Mechanisms of “de novo” expansions and mutational processes of intergenerational instability in repeat-associated disorders

Genetic epidemiology of spinocerebellar ataxias: mutations' history, ancestral backgrounds, populations-of-origin, mutations' age and routes of dispersal

Evolution of normal alleles at repetitive loci

Supervisor of
Daniela Felício, External Researcher
PhD student

PI (running)

PI (closed)
First Author
1. Martins S, Costa IPD, Giunti P, Watanabe M, Sasaki H, Almeida BC, Amorim A, Gaspar C, Nicholson G, Saraiva-Pereira ML, Tsuji S, Li Q, Chen S, Landoure G, Maciel P, Zaltzman R, Sharony R, Zhou Y, Barros J, Loureiro JL, Cruz VT, Ruano L, Brunt ERP, Corral-Juan MM, Hsieh M, Tranebjaerg L, Olajumoke O, Ogun SA, Finkel MF, Gordon C, Cornejo-Olivas M, Fischbeck K, Matilla-Duenas A, Volpini V, Riess O, Wu Z, Rouleau GA, Jardim LB, Stevanin G, Brice A, Coutinho P, Soong B, Ranum LP, Durr A, Sequeiros J
Prevalence of Machado-Joseph disease (MJD/SCA3) explained by migration and multiple founder effects European journal of human genetics : EJHG 28: 402-403, 2020. [Meeting Abstract] 
2. Martins S, Sequeiros J
Origins and Spread of Machado-Joseph Disease Ancestral Mutations Events. Advances in experimental medicine and biology 1049: 243-254, 2018. [Article; Book Chapter] 
3. Martins S, Sharony R, Costa IPD, Zaltzman R, Amorim A, Sequeiros J, Gordon CR
Jewish MJD patients of Yemenite descent share a recent common ancestor EUROPEAN JOURNAL OF NEUROLOGY 25: 263-263, 2018. [Meeting Abstract] 
4. Martins S, Pearson CE, Coutinho P, Provost S, Amorim A, Dubé MP, Sequeiros J, Rouleau GA
5. Martins S, Soong BW, Wong VC, Giunti P, Stevanin G, Ranum LP, Sasaki H, Riess O, Tsuji S, Coutinho P, Amorim A, Sequeiros J, Nicholson GA
6. Martins S, Coutinho P, Silveira I, Giunti P, Jardim LB, Calafell F, Sequeiros J, Amorim A
Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease. Am J Med Genet B Neuropsychiatr Genet 147B: 439-46, 2008. [Article] 
7. Martins S, Calafell F, Gaspar C, Wong VC, Silveira I, Nicholson GA, Brunt ER, Tranebjaerg L, Stevanin G, Hsieh M, Soong BW, Loureiro L, Dürr A, Tsuji S, Watanabe M, Jardim LB, Giunti P, Riess O, Ranum LP, Brice A, Rouleau GA, Coutinho P, Amorim A, Sequeiros J
Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Archives of neurology 64: 1502-8, 2007. [Article] 
8. Martins S, Calafell F, Wong VC, Sequeiros J, Amorim A
A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus. European journal of human genetics : EJHG 14: 932-40, 2006. [Article] 
9. Martins S, Trigo F, Azevedo L, Silva MJ, Guimaraes JE, Amorim A
Senior Author
1. González RD, Gomes I, Gomes C, Rocha R, Durães L, Sousa P, Figueruelo M, Rodríguez M, Pita C, Hornero R, Gómez C, Lopes AM, Pinto N, Martins S
2. Costa IPD, Almeida BC, Sequeiros J, Amorim A, Martins S
3. Maia N, Loureiro JR, Oliveira B, Marques I, Santos R, Jorge P, Martins S
4. Santos D, Pimenta J, Wong VC, Amorim A, Martins S
Diversity in the androgen receptor CAG repeat has been shaped by a multistep mutational mechanism. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 165: 581-6, 2014. [Article] 
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