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Contact information


celine.santiago@cardiov.ox.ac.uk


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Celine Santiago

PhD

Post-doctoral researcher

  • Biomarin Research Fellow
  • Guest lecturer, Centre for Human Genetics

Investigating how genetic variants in the largest protein in the human body cause heart muscle disease

Research profile

Dr. Celine Santiago is a post-doctoral researcher under the supervision of Associate Professor Chris Toepfer and Professor Hugh Watkins in the Division of Cardiovascular Medicine. Her research interests lie in investigating the molecular mechanisms underlying inherited dilated cardiomyopathy and potential molecular therapies to treat this progressive heart muscle disorder. She has a particular focus on dilated cardiomyopathy caused by genetic variants in the TTN gene, encoding the giant sarcomeric protein titin.

In her research, Dr. Santiago employs CRISPR-Cas9 genome-editing to engineer clinically relevant genetic variants into human induced pluripotent stem cells. These stem cells can then be differentiated into cardiomyocytes and used to model human heart disease in a dish.

biography

Dr. 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. 

Dr. Santiago plays an active role in improving equity, diversity and inclusion for all STEM professionals in the cardiovascular research community both at the national and international level, and she is a strong advocate for wellness and mental health in academia, particularly for early career researchers. 

Key publications

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