Expertise: Gene Editing, Epigenetics, Stem cell models, Rare Neurodevelopment RASopathies, Disease Modeling
Short Bio:
Joana holds a Master's in Biological Engineering from Instituto Superior Técnico (IST) (2023) and is pursuing a PhD in Bioengineering at IST. Her research focuses on developing human stem cell models to study rare neurodevelopmental diseases, particularly RASopathies like Costello Syndrome and SYNGAP1-related intellectual disability. Since her Master's she has been working on generating gene-edited stem cell models of Costello Syndrome, creating the basis for brain disease-specific organoid models. By combining genetic engineering with forebrain organoids, Joana aims to deepen the understanding of disease mechanisms, identify biomarkers for drug screening, and contribute to developing innovative therapies.
Research Focus:
Developing human stem cell models to study neurodevelopment diseases and advance effective therapies.
Raposo A., Caldas P., Arez M., Jeremias J., Barbosa P., Sousa-Luís R., Água F., Oxley D., Mupo A., Eckersley-Maslin M., Casanova M., Grosso A., Teixeira da Rocha, S. (2025) Erosion of X-chromosome Inactivation in
female hiPSCs is heterogeneous and persists during differentiation. Stem Cell Reports (bioRXiv). https://doi.org/10.1101/2024.03.15.585169