Patricia Maciel

  • Neurodegeneration
  • Ataxia
  • Proteostasis
  • Neurodevelopment
  • Intellectual disability
  • Autism
  • Epilepsy
  • Genetics
  • Mechanisms
  • Preclinical Studies

Patrícia Maciel obtained a B.Sc. in Biochemistry (1993) and a Ph.D. in Biomedical Sciences – Genetics (1998) at the University of Porto, having developed her thesis work at Hôpital Necker-Enfants Malades, France, and at the Centre for Research in Neuroscience, McGill University, Canada.
Dr. Maciel is currently an Associate Professor at the School of Medicine, Director of the MSc program in Health Sciences and Senior Researcher at the ICVS (Life and Health Sciences Research Institute), where she leads the Translational Neurogenetics research team. Her work, focusing on the discovery of molecular mechanisms and therapeutics for neurological diseases, has led to over 135 publications in peer-reviewed scientific journals, with an H-index of 36 (Researcher ID)/46 (Google Scholar). She has supervised 20 PhD students and 20 MSc students to thesis completion. She is an inventor in two patents and has multiple collaborations with pharmaceutical companies for drug discovery and development.
In addition to serving as reviewer for over 30 scientific journals and for national and international funding entities, Dr. Maciel integrates the Inter-Ministerial Committee for an Integrated Strategy for Rare Diseases, the Policy Board of the European Joint Programme on Rare Diseases, and served as Expert and Rapporteur for the National Agenda for Research and Development promoted by FCT. She is an elected member of the General Council of the University of Minho since July 2020.

Scientific Highlights

Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, Klei L, Wamsley B, Stevens CR, Cusick C, Babadi M, Banks E, Collins B, Dodge S, Gabriel SB, Gauthier L, Lee SK, Liang L, Ljungdahl A, Mahjani B, Sloofman L, Smirnov A, Barbosa M, Betancur C, Brusco A, Chung BHY, Cook EH, Cuccaro ML, Domenici E, Ferrero GB, Gargus JJ, Herman GE, Hertz-Picciotto I, MACIEL P, Manoach DS, Passos-Bueno MR, Persico AM, Renieri A, Sutcliffe JS, Tassone F, Trabetti E, Campos G, Chan MCY, Fallerini C, Giorgio E, Girard AC, Hansen-Kiss E, Lee SL, Lintas C, Ludena Y, Nguyen R, Pavinato L, Pericak-Vance M, Pessah I, Riberi E, Schmidt R, Smith M, Souza CIC, Trajkova S, Wang JYT, Yu MHC, Cutler DJ, De Rubeis S, Buxbaum JD, Daly MJ, Devlin B, Roeder K, Sanders SJ, Talkowski ME. “Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism”. Nature Genetics 54, 1320–1331 (2022).

Satterstrom, F. K., Kosmicki, J. A., Wang, J., Breen, M. S., De Rubeis, S., An, J. Y., Peng, M., Collins, R., Grove, J., Klei, L., Stevens, C., Reichert, J., Mulhern, M. S., Artomov, M., Gerges, S., Sheppard, B., Xu, X., Bhaduri, A., Norman, U., Brand, H., … Buxbaum, J. D. (2020). Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell, 180(3), 568–584.e23.

Barbosa, M., Joshi, R. S., Garg, P., Martin-Trujillo, A., Patel, N., Jadhav, B., Watson, C. T., Gibson, W., Chetnik, K., Tessereau, C., Mei, H., De Rubeis, S., Reichert, J., Lopes, F., Vissers, L. E. L. M., Kleefstra, T., Grice, D. E., Edelmann, L., Soares, G., Maciel, P., … Sharp, A. J. (2018). Identification of rare de novo epigenetic variations in congenital disorders. Nature Communications, 9(1), 2064.

Lopes, F.*, Torres, F.*, Soares, G., Barbosa, M., Silva, J., Duque, F., Rocha, M., Sá, J., Oliveira, G., Sá, M. J., Temudo, T., Sousa, S., Marques, C., Lopes, S., Gomes, C., Barros, G., Jorge, A., Rocha, F., Martins, C., Mesquita, S., … Maciel, P. (2019). Genomic imbalances defining novel intellectual disability associated loci. Orphanet Journal of Rare diseases, 14(1), 164.

Duarte-Silva, S., Neves-Carvalho, A., Soares-Cunha, C., Silva, J. M., Teixeira-Castro, A., Vieira, R., Silva-Fernandes, A., & Maciel, P. (2018). Neuroprotective Effects of Creatine in the CMVMJD135 Mouse Model of Spinocerebellar Ataxia Type 3. Movement Disorders: official journal of the Movement Disorder Society, 33(5), 815–826.

Lopes, F.*, Barbosa, M.*, Ameur, A., Soares, G., de Sá, J., Dias, A. I., Oliveira, G., Cabral, P., Temudo, T., Calado, E., Cruz, I. F., Vieira, J. P., Oliveira, R., Esteves, S., Sauer, S., Jonasson, I., Syvänen, A. C., Gyllensten, U., Pinto, D., & Maciel, P. (2016). Identification of novel genetic causes of Rett syndrome-like phenotypes. Journal of Medical Genetics, 53(3), 190–199.

Teixeira-Castro, A.*, Jalles, A.*, Esteves, S.*, Kang, S., da Silva Santos, L., Silva-Fernandes, A., Neto, M. F., Brielmann, R. M., Bessa, C., Duarte-Silva, S., Miranda, A., Oliveira, S., Neves-Carvalho, A., Bessa, J., Summavielle, T., Silverman, R. B., Oliveira, P., Morimoto, R. I., & Maciel, P. (2015). Serotonergic signalling suppresses ataxin 3 aggregation and neurotoxicity in animal models of Machado-Joseph disease. Brain: a journal of neurology, 138(Pt 11), 3221–3237.

Neves-Carvalho, A., Logarinho, E., Freitas, A., Duarte-Silva, S., Costa, M.doC., Silva-Fernandes, A., Martins, M., Serra, S. C., Lopes, A. T., Paulson, H. L., Heutink, P., Relvas, J. B., & Maciel, P. (2015). Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells. Human Molecular Genetics, 24(1), 100–117.

Silva-Fernandes, A.*, Duarte-Silva, S.*, Neves-Carvalho, A., Amorim, M., Soares-Cunha, C., Oliveira, P., Thirstrup, K., Teixeira-Castro, A., & Maciel, P. (2014). Chronic treatment with 17-DMAG improves balance and coordination in a new mouse model of Machado-Joseph disease. Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics, 11(2), 433–449.

Teixeira-Castro, A., Ailion, M., Jalles, A., Brignull, H. R., Vilaça, J. L., Dias, N., Rodrigues, P., Oliveira, J. F., Neves-Carvalho, A., Morimoto, R. I., & Maciel, P. (2011). Neuron-specific proteotoxicity of mutant ataxin-3 in C. elegans: rescue by the DAF-16 and HSF-1 pathways. Human Molecular Genetics, 20(15), 2996–3009.


Genetics of Neurodevelopmental Disorders

Our multidisciplinary research team aims at dentifying and validating novel genetic causes of neurodevelopmental disorders in human patients, taking advantage of clinically well characterized patient cohorts and…

Read More

Serotonin signaling and proteostasis

This project addresses an unmet medical need- the lack of effective treatment for any of the aging-associated neurodegenerative diseases. Due to the worldwide aging of the population, by 2050 it is expected that over 135 million people…

Read More