Biography
Izabella is an enthusiastic researcher, passionate about science and biology. Dr Pena is a Brazilian scientist with a PhD in Genetics and Molecular Biology and vast scientific experience (Brazil (University of Campinas), UK (SGC-University of Oxford), Canada (CHEO-RI/uOttawa) and the United States (MIT)).
Her laboratory aims to investigate molecular mechanisms of rare metabolic disorders affecting the pediatric population. She focuses on diseases where the affected gene/protein has roles in the function of an organelle called mitochondria. Examples of such diseases include Pyridoxine-Dependent Epilepsy (PDE), Glutaric Acidemia type I (GA1) and Congenital Sideroblastic Anemias (CSA).
The Pena lab uses functional genomics (CRISPR screens), organelle profiling (metabolomics and proteomics LC-MS), gene therapy (AAV), drug screenings, develop animal models and various molecular biology techniques to investigate these rare diseases. The main models of study are patient-derived cells (fibroblasts and lymphoblasts), common cell lines, zebrafish and mice. Being based at CHEO-RI, Izabella is fortunate to collaborate with clinicians and patient families to understand these diseases and try to develop new therapies.