I completed my medical training in the Faculty of Medicine of Porto University (Portugal) in July 2008, after being invited, in 2005, to a teaching academic post at the faculty’s Biochemistry Department, due to my keen interest in mechanistic research and laboratorial work.
In 2009, I started my Neurology training in Centro Hospitalar de São João, Porto, Portugal, one of the main medical centres in the country and where I developed an interest for genetic neuromuscular conditions and especially mitochondrial diseases.
In 2016, I completed my medical training and moved to Newcastle to join the John Walton Muscular Dystrophy Research Centre (JWMRC) as a Speciality Doctor for a commercial clinical trial in Myotonic Dystrophy. But my mind was set on developing an academic carrier in mitochondrial diseases and I later join the Wellcome Centre for Mitochondrial Research, where I am currently working as a clinician and a researcher.
I am involved in a range of projects investigating mechanisms of mitochondrial dysfunction in skeletal muscle and mitochondrial disease progression. However, I am also a PhD student and principal investigator for my own research project on understanding how disease progresses in mitochondrial myopathies.
Research Project: Understanding how disease progresses in mitochondrial myopathies
Principal Investigators: Dr Tiago Bernardino Gomes
Other staff members involved: Professor Grainne Gorman, Professor Robert Lightowlers, Dr Amy Vincent and Dr Conor Lawless
There are currently very limited therapeutic options for patients with mitochondrial myopathies and the main barrier for development is our limited knowledge of the mechanisms of progression of these conditions. I will investigate the genetic mechanisms and cellular pathways contributing to the clinical progression of mitochondrial myopathy in patients with mitochondrial DNA deletions. My final goal is to identify new mechanistic targets to fuel future development of disease-modifying treatments of high benefit to patient care. I will approach these aims from the following angles:
1. Create a longitudinal collection of clinical data and muscle samples from participants with mitochondrial myopathies due to mitochondrial DNA deletions.
2. Investigate changes in protein markers of ageing and mitochondrial biology to understand disease progression with age at the cellular level and identify new treatment targets.
3. Investigate how changes in mitochondrial DNA with age correlate with the changes observed on protein markers and if clonal expansion contributes to disease progression.
4. Use my multimodal datasets with complex signalling and genetic data to model the mechanisms of the disease in silico.
5. Collaborate with the drug development group to further characterise the suitability of the findings for drug targeting and development.
1. Horrigan, J., Gomes, T., Snape, M., Nikolenko, N., McMorn, A., Evans, S., Yaroshinsky, A., Della Pasqua, O., Oosterholt, S., & Lochmüller, H. (2020). A Phase 2 Study of AMO-02 (tideglusib) in Congenital and Childhood Onset Myotonic Dystrophy Type 1 (DM1). Pediatr Neurol (in-press). doi:10.1016/j.pediatrneurol.2020.08.001
2. Gomes, T. (2019). The best care for children with facioscapulohumeral dystrophy. Dev Med Child Neurol, 61(8), 865. doi:10.1111/dmcn.14158
3. Aires, A., Gomes, T., Linhares, P., Cunha, F., Rosas, M. J., & Vaz, R. (2018). The impact of deep brain stimulation on health related quality of life and disease-specific disability in Meige Syndrome (MS). Clin Neurol Neurosurg, 171, 53-57. doi:10.1016/j.clineuro.2018.05.012
4. Bastos*, P., Gomes*, T., & Ribeiro, L. (2017). Catechol-O-Methyltransferase (COMT): An Update on Its Role in Cancer, Neurological and Cardiovascular Diseases. Rev Physiol Biochem Pharmacol, 173, 1-39. doi:10.1007/112_2017_2. (*equally contributed to this work)
5. Gomes, T., Guimaraes, J., Leao, M., & Grupo de Neurogenetica do Centro Hospitalar Sao, J. (2017). [Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar Sao Joao, Portugal]. Acta Med Port, 30(6), 502-512. doi:10.20344/amp.8797
6. Sousa, L., Sequeira, C., Ferré-Grau, C., Neves, P., Lleixá-Fortuño, M., Monteiro, A., Meireles, J., Pinto, M., Gomes, T. (2017). “Living together with dementia”: Training programme for family caregivers – A study protocol. Porto Biomed J, 2(6): 282-286. doi:10.1016/j.pbj.2017.04.003
7. Rocha, H., Monteiro, A., Gomes, T., Grilo, M., & Carvalho, M. (2016). A Neurologist’s Hard Day’s Work: Impact of Inpatient Neurology Consultation in a Tertiary Hospital. Acta Med Port, 29(1), 46-51. doi:10.20344/amp.6535
8. Monteiro, A., Gomes, T., Fitas, D., & Nadais, G. (2016). Small lymphocytic lymphoma associated with extensive myelopathy: Case report and review of the literature. J Neurol Sci, 369, 283-285. doi:10.1016/j.jns.2016.08.043