Development and Evolutionary Morphogenesis - DEM

Ana Rita Cabral Martins Carlos

Assistant Professor

LAMA2 Muscular dystrophy Cancer Oxidative stress and DNA damage ECM remodeling Cell physiology Cell fate

I did my PhD at the University of Oxford, in the UK, on the role of DNA damage responses in maintaining genomic stability and preventing tumorigenesis. During this period, I focused on understanding which DNA repair pathways and associated proteins are required for the repair of uncapped telomeres. I have also studied the senescence mechanisms associated with BRCA2 mutations.

Upon completion of my PhD in 2013, I moved back to Portugal, where I did my postdoctoral research at Instituto Gulbenkian Ciência. There I studied the importance of disease tolerance mechanisms, in particular iron-responsive mechanisms and metabolic adaptation, in the context of infection.

Now as an Assistant Researcher at the Development and Evolutionary Morphogenesis (DEM) group at the cE3c, Faculdade de Ciencias Universidade de Lisboa, I am studying the importance of preserving extracellular matrix (ECM) integrity in order to prevent disease onset and progression, for example due to the presence of oxidative stress and DNA damage, which may subsequentially trigger different cell fate mechanisms.

My lines of research focus on:

• How senescence or other p53-dependent mechanisms contribute to the onset of LAMA2 congenital muscular dystrophy (LAMA2-CMD), a severe neuromuscular disease caused by mutations in LAMA2, which codes for the alpha chain of laminins 211/221, key components of ECM. (L’Oréal Portugal Medals of Honor for Women in Science 2019)
• What is the impact of LAMA2 deficiency in the context of other pathologies, such as cancer.
• How does ECM remodelling links to oxidative stress and DNA damage
• Can environmental pollutants impact ECM remodelling
• Gene therapy strategies for LAMA2-CMD