Adrine de Souza

Genome Analyst, Genome Diagnostics, Department of Paediatric Laboratory Medicine (DPLM)

Adrine's research interests are focused on rare diseases, functional genomics, and variant interpretation. During her PhD, supervised by Dr. Fritz Roth, she led two Multiplex Assays of Variant Effects projects for two kidney-related and rare disease genes. Currently, she investigates how pharmacogenomic data from WGS can be integrated into clinical practice to advance precision medicine.

Adrine de Souza is a biotechnologist focused on human genetics and variant interpretation, she completed her PhD in Molecular Genetics at the University of Toronto. Her work at SickKids focuses on the implementation of pharmacogenomic (PGx) testing from whole genome sequencing (WGS) data to support clinical decision-making. She supports research efforts and plays a key role in developing and optimizing workflows for PGx variant interpretation and reporting for pediatric patients.

Education and experience

• 2024–Present: Pharmacogenomics Data Analyst, The Hospital for Sick Children, Toronto, ON, Canada
• 2018–2024: PhD in Molecular Genetics, Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada
• 2015–2016: Certificate in Biotechnology, Boston University, Boston, MA, USA
• 2013–2017: Bachelor of Biotechnology, Universidade Federal do Pampa, São Gabriel, RS, Brazil

Achievements

• 2021–2022: University of Toronto Fellowship, University of Toronto, Toronto, ON, Canada
• 2015–2016: Science Without Borders Exchange Program Scholarship, Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES), Brazil