Maria do Carmo Pereira da Costa, Ph.D.

Maria do Carmo Pereira da Costa, PhD is a research assistant professor in the Department of Neurology at Michigan Medicine, University of Michigan.

Carmo joined the faculty of the Department of Neurology in 2013 and was promoted to research assistant professor in 2017. Using biochemistry, molecular and cellular biology, high-throughput small-molecule and genetic screens, and mouse models, the Costa laboratory focuses its research on drug and target discovery for neurodegenerative diseases, and on investigating molecular mechanisms of neurodegeneration with an emphasis on Machado-Joseph disease (MJD), also known as Spinocerebellar ataxia type 3 (SCA3).

Carmo received her undergraduate degree in Biochemistry from the University of Porto (2000) and her PhD 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, PhD, and Jorge Sequeiros, MD, PhD, at UnIGENe/ Institute of Molecular and Cellular Biology (IBMC), University of Porto, to conduct her undergraduate thesis focused on the improvement of the molecular diagnosis of Huntington’s disease (HD) and of MJD/SCA3. She continued working as a research assistant at IBMC, being responsible for the genetic testing of Huntington’s disease, participating in several molecular genetic studies of MJD/SCA3, HD and related disorders, and in the generation and characterization of C. elegans and mouse models of MJD/SCA3.

For her PhD 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/SCA3 transgenic mouse model that replicates aspects of the human disease.

Given her long interest in MJD, Carmo joined the laboratory of Henry Paulson, MD, PhD, 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 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, the National Ataxia Foundation (NAF) Young SCA Research Award in 2015 to define molecular pathways that handle toxic ATXN3 protein in MJD/SCA3, and the NAF Pioneer Translational Award in 2018 to explore the therapeutic capacity of Aripiprazole and related compounds for MJD/SCA3.