Pena Lab @ CHEO-RI / uOttawa

Welcome to our laboratory!

We investigate the molecular mechanisms underlying rare metabolic disorders that affect children, with a particular emphasis on diseases involving mitochondrial dysfunction. These conditions arise from mutations in genes encoding proteins that play essential roles in mitochondrial biology. Among the diseases we study are Pyridoxine-Dependent Epilepsy (PDE), Glutaric Acidemia Type I (GA1), and Congenital Sideroblastic Anemias (CSA).

To uncover the mechanistic basis of these disorders, our lab employs a multidisciplinary approach that integrates functional genomics, organelle profiling, gene therapy, drug screening, and animal model development. We utilize CRISPR-based screens to interrogate gene function, and apply metabolomics and proteomics via LC-MS to profile mitochondrial activity. Our therapeutic investigations include adeno-associated virus (AAV) gene delivery and high-throughput drug screening. These efforts are supported by a range of molecular biology techniques and model systems, including patient-derived fibroblasts and lymphoblasts, established cell lines, zebrafish, and mice.

Located at the Children's Hospital of Eastern Ontario Research Institute (CHEO-RI), our lab benefits from close collaboration with clinicians and patient families. This unique environment allows us to translate molecular insights into potential therapies and deepen our understanding of these complex diseases

Established in the summer of 2023, our lab is actively growing—and we’re recruiting. If you are a prospective or incoming MSc or PhD student in the University of Ottawa’s Cellular and Molecular Medicine (CMM) program and are passionate about rare disease research, we encourage you to reach out and learn more about joining our team - contact us!