James Ellis

Canada Research Chair in Stem Cell Models of Childhood Disease

Tier 1 - 2022-01-01
University of Toronto
Canadian Institutes of Health Research

Research summary

Stem cell models hold important information about the disease mechanisms that cause childhood neurodevelopmental disorders and cardiomyopathies (diseases of the heart muscle). But major gaps remain in our understanding of how the regulation of gene and protein levels are changed in these disorders. Dr. James Ellis is a global pioneer in using stem cell models to study childhood genetic diseases.

As Canada Research Chair in Stem Cell Models of Childhood Disease, he is exploring the mechanisms that cause incorrect RNA and protein levels in Rett syndrome nerve cells and reduce their activity. This work will uncover biological targets that point to novel potential therapies. He and his research team are also demonstrating that variants in DNA promoters alter the RNA levels of cardiomyopathy genes and compromise the activity of beating heart cells. This will establish a functional genomics roadmap that uses stem cell models to show effects on the regulation of other disease-causing genes. Ultimately, their research will help to identify pathways for precision medicines.