Pena Lab @ CHEO-RI / uOttawa

Welcome to our laboratory!

We investigate molecular mechanisms of rare metabolic disorders affecting the pediatric population. We focus 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). 

We use 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 the mechanistic basis of these rare diseases. Our main models of study are patient-derived cells (fibroblasts and lymphoblasts), common cell lines, zebrafish and mice. Our lab is based at the Children's Hospital of Eastern Ontario Research Institute (CHEO-RI) where we are fortunate to collaborate with clinicians and patient families to understand these diseases and try to develop new therapies. 

Our young lab has been established in the summer of 2023 and we are recruiting! If you are a prospective or incoming MSc or PhD student on the University of Ottawa CMM program and would like to learn more about our lab, contact us!