Celine Santiago

Dr. Celine Santiago completed her PhD in molecular cardiology at the Victor Chang Cardiac Research Institute and School of Clinical Medicine, University of New South Wales with Professor Diane Fatkin in Sydney, Australia. Her PhD focused on investigating the role of gene-environment interactions in inherited dilated cardiomyopathy using a unique zebrafish model. 

In 2024, Celine joined the RDM Division of Cardiovascular Medicine as a post-doctoral researcher with Associate Professor Chris Toepfer and Professor Hugh Watkins. Her current research interests lie in investigating underlying molecular mechanisms and potential therapies to treat the common heart muscle disorder dilated cardiomyopathy, using CRISPR/Cas9 engineered human induced pluripotent stem cell-derived cardiomyocyte models. She has a particular focus on dilated cardiomyopathy caused by genetic variants in the TTN gene which encodes ‘titin’, the largest protein in the human body, and one that is critical in heart muscle function.

Publications:    

1. Location-Dependent Differences in Cardiac and Skeletal Muscle Dysfunction Associated With Truncating Titin (ttn. 2) Variants. Santiago CF. et al. (2024). BioRvix
2. Environmental Risk Factors Influence the Natural History of Familial Dilated Cardiomyopathy. Peters S. et al. (2024). MedRvix
3. Titin-related cardiomyopathy: is it a distinct disease?. Santiago. CF et al. (2022). Current Cardiology Reports
4. Mechanisms of TTNtv-Related Dilated Cardiomyopathy: Insights from Zebrafish Models. Santiago CF. et al. (2021). Journal of Cardiovascular Development and Disease
5. A-band titin truncation in zebrafish causes dilated cardiomyopathy and hemodynamic stress intolerance. Wang LW. et al. (2018). Circulation Genomics and Precision Medicine