Jorge Diogo Da Silva

  • Medical Genetics
  • Neurogenetics
  • Neurodegeneration
  • Neuroscience
  • Ataxia
  • C. elegans
  • Pre-clinical studies
  • Translational studies
  • Genomics

Jorge Diogo da Silva is an M.D./Ph.D. currently engaged in the Medical Genetics Residency program at the Porto Hospital Centre while maintaining research activity with a focus on Human Genetics and Neuroscience, as a post-doctoral fellow at the ICVS, School of Medicine, University of Minho. Throughout his medical degree studies, Jorge has engaged in several research activities, and he has pursued his Ph.D. studies at the ICVS in collaboration with Thomas Jefferson University (Philadelphia, USA), as well as with Columbia University (New York, USA), where he carried out part of his doctoral work. His Ph.D. thesis focused on the topic of Neurogenetics, where he explored the usefulness of nematode models to study neurogenetic diseases, in both fundamental and translational perspectives. He has presented his work in several international meetings, having been awarded several scholarships, as well as the prize for Best Hot Chair presentation at the 7th Ataxia Investigators Meeting. He has also collaborated and took part in research studies in both Fundamental and Clinical Medicine, currently with published work in Epigenetics, Stem Cell Research, Neuroscience and Clinical Neurology. Jorge has also undertaken post-graduate training in Clinical Trial Regulation and Biostatistics, and participated in entrepreneurship activities, integrating the IdeaLab program for business ideas (University of Minho) and the winning team of the 2015 SpinUM Business Idea contest (University of Minho). Lastly, Jorge is currently involved in teaching activities at the University of Minho in the field of Genetics, for both medical, psychology and post-graduate students.

Scientific Highlights

Da Silva, J. D., Oliveira, S., Pereira-Sousa, J., Teixeira-Castro, A., Costa, M. D., & Maciel, P. (2020). Loss of egli-1, the Caenorhabditis elegans Orthologue of a Downstream Target of SMN, Leads to Abnormalities in Sensorimotor Integration. Molecular neurobiology, 57(3), 1553–1569.

Da Silva, J. D., Teixeira-Castro, A., & Maciel, P. (2019). From Pathogenesis to Novel Therapeutics for Spinocerebellar Ataxia Type 3: Evading Potholes on the Way to Translation. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 16(4), 1009–1031.

Da Silva, J. D., Costa, M. D., Almeida, B., Lopes, F., Maciel, P., & Teixeira-Castro, A. (2021). Case Report: A Novel GNB1 Mutation Causes Global Developmental Delay With Intellectual Disability and Behavioral Disorders. Frontiers in neurology, 12, 735549.

Bravo, F. V., Da Silva, J., Chan, R. B., Di Paolo, G., Teixeira-Castro, A., & Oliveira, T. G. (2018). Phospholipase D functional ablation has a protective effect in an Alzheimer’s disease Caenorhabditis elegans model. Scientific reports, 8(1), 3540.

Antunes, C., Da Silva, J. D., Guerra-Gomes, S., Alves, N. D., Ferreira, F., Loureiro-Campos, E., Branco, M. R., Sousa, N., Reik, W., Pinto, L., & Marques, C. J. (2021). Tet3 ablation in adult brain neurons increases anxiety-like behavior and regulates cognitive function in mice. Molecular psychiatry, 26(5), 1445–1457.

Mendes-Pinheiro, B., Anjo, S. I., Manadas, B., Da Silva, J. D., Marote, A., Behie, L. A., Teixeira, F. G., & Salgado, A. J. (2019). Bone Marrow Mesenchymal Stem Cells’ Secretome Exerts Neuroprotective Effects in a Parkinson’s Disease Rat Model. Frontiers in bioengineering and biotechnology, 7, 294.

Antunes, C., Da Silva, J. D., Guerra-Gomes, S., Alves, N. D., Loureiro-Campos, E., Pinto, L., & Marques, C. J. (2022). Tet3 Deletion in Adult Brain Neurons of Female Mice Results in Anxiety-like Behavior and Cognitive Impairments. Molecular neurobiology, 59(8), 4892–4901.

Meira-Carvalho, F., Da Silva, J. D., & Rodrigues, M. (2021). Opicapone in Parkinson’s Disease: Real-World Data from a Portuguese Center. European neurology, 84(2), 129–131.

Funding and Awards
Prize for the Best Hot Chair Presentation at the 7th Ataxia Investigators Meeting (Philadelphia, PA, USA, 2018).


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…

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