Maria do Carmo Pereira da Costa, Ph.D. is a research assistant professor in the Department of Neurology at Michigan Medicine, University of Michigan.
Carmo received her undergraduate degree in Biochemistry from the University of Porto (2000) and her Ph.D. in Life and Biomedical Sciences from the University of Minho (2008) in Portugal.
Carmo started her research career in 1998 in the laboratory of Patrícia Maciel, Ph.D., and Jorge Sequeiros, M.D., Ph.D., at UnIGENe/ Institute of Molecular and Cellular Biology (IBMC), University of Porto, while conducting her undergraduate thesis on the improvement of molecular diagnosis of Huntington’s disease (HD) and of Machado-Joseph disease (MJD), also known as Spinocerebellar ataxia type 3 (SCA3). She continued working as a research assistant at IBMC until 2003, being responsible for the genetic testing of Huntington’s disease, participating in several molecular genetic studies of MJD, HD and related disorders, and in the generation and characterization of C. elegans and mouse models of MJD.
For her Ph.D. thesis, at the University of Minho and under continued guidance of Dr. Patrícia Maciel, Carmo focused on studying the ATXN3 mouse homologue gene and its protein contributing for a better understanding of its biological function. She also generated and characterized a MJD transgenic mouse model that replicates aspects of the human disease.
Given her long interest in MJD, Carmo joined the laboratory of Henry Paulson, M.D., Ph.D., at the Department of Neurology, University of Michigan, in 2008 as a post-doctoral fellow where she explored pharmacological and RNA interference-mediated strategies to reduce levels of mutant ATXN3 protein in the brain that can be translated for MJD/SCA3 patients.
Carmo joined the faculty of the Department of Neurology in 2013. Using biochemistry, molecular and cellular biology, high-throughput small-molecule and genetic screens, and mouse models, her research currently focuses on drug and target discovery for MJD and molecular mechanisms of neurodegeneration.
Carmo received the 1st Prize of Young Investigator by the Portuguese Society of Human Genetics in 2000 by her contribution to the improvement of the molecular diagnosis of MJD, and more recently the National Ataxia Foundation Young SCA Research Award in 2015 to define molecular pathways that handle toxic ATXN3 protein in MJD.
Areas of Interest
MJD/SCA3, function and dysfunction of polyglutamine proteins, translational approaches for neurodegenerative diseases, molecular mechanisms and biomarkers of neurodegeneration, and genetics of dynamic repeat disorders.
- Ph.D. in Life and Biomedical Sciences, Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Portugal, 2008
- Research Fellowship (Proj.33759/99), Fundação para a Ciência e a Tecnologia (FCT), Portugal, 2001-2003
- Doctoral Fellowship, (SFRH/BD/9759/2003), Fundação para a Ciência e a Tecnologia (FCT), Portugal, (2003-2007)
- Postdoctoral Fellowship, (SFRH/BPD/28560/2006), Fundação para a Ciência e a Tecnologia (FCT), Portugal, (2008-2011)
- National Ataxia Foundation (NAF) Research Postdoctoral Fellowship Award, 2011