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Dr Timothy Spracklen recently joined the unit as a posdoctoral fellow after completing his PhD on whole-exome sequencing of cases with familial cardiomyopathy at the University of Cape Town in 2020. Dr Spracklen has a background in human genetics and his research interests include heritable and sporadic forms of cardiovascular disease, genomics, bioinformatics, rare diseases, and common susceptibility loci. During his Novartis Global Health Fellowship, he studied methods of functionally modelling disease-causing mutations identified in African populations. He is primarily involved in the PROTEA study, where he contributes to the investigation of genetic causes of congenital heart disease in South Africa and other collaborating countries. |