Poster Presentation Winners
Research Category
Winner
Identification and characterization of genome-wide tandem repeat expansions in mlanoma
Celine Salhab
Graduate Student – M.Sc. Candidate
Yuen Lab
Runner Up
A DNA methylation signature for Claes-Jensen syndrome:
Diagnostic Insights into KDM5C variants
Mengqi Wang, PhD
Research Fellow
Weksberg Lab
Clinical / Translational Category
Winners (2 way tie)
Transitions from Pediatric to Adult Care in Adolescents & Young Adults Living with Rare Disease: A scoping review protocol
Sarah Lopes Sadafi
Clinical Research Assistant
Battish & Beattie Labs
Increasing Epilepsy-Related Diagnostic Yield from Short-Read Rapid Genome Sequencing
Jimmy Nguyen
Graduate Student – M.Sc. Candidate
Costain Lab
Oral Presentation Winners
Winner
Developing an approach to screening rare
genetic diagnoses for amenability to bespoke antisense
oligonucleotide therapy development
David Cheerie
Clinical Research Project Manager
Costain Lab
Runner Up
Single-vector base editing rescues a nonsense variant in a humanized mouse model of Duchenne muscular dystrophy
Ryan Marks
Graduate Student – PhD Candidate
Ivakine & Cohn Labs
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