Dr. Izabella Pena

Dr. Izabella Pena
Dr. Izabella Pena
Assistant Professor, Department of Cellular and Molecular Medicine
Scientist, CHEO Research Institute


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.

Research interests

  • Genetic
  • Neurology
  • Rare diseases