Keynote
Monica Wojcik, MD, MPH
Medical Director, Manton Center Gene Discovery Core;
Newborn Medicine Medical Director
Fetal Care and Surgery Center;
Attending Physician, Divisions of Newborn Medicine & Genetics and Genomics;
Assistant Professor of Pediatrics, Harvard Medical School
Spotlight Speaker
Tamorah Lewis, MD, PhD
Staff Physician, Division of Neonatology
Senior Associate Scientist,
Translational Medicine, SickKids
Spotlight Speaker
Lena Dolman, MD, M.Sc.
PGY-4 Pediatrics Resident,
University of Toronto
Incoming CanGARD Fellow, Advanced Genomics in Paediatric Rare Disease (May 2026)
Family Experience
Poster Presentation Winners
Research Category
Winner
Proof-of-concept base editing corrects a pathogenic non-coding splice varieant in congenital muscular dystrophy
Ryan Marks
Graduate Student – PhD Candidate
Cohn / Ivakine Labs
Runner Up
Modelling Argonaute Syndromes associated variants in C. elegans
Ellanore Rughani
Graduate Student – M.Sc. Candidate
Claycomb Lab
Clinical / Translational Category
Winners (2 way tie)
Streamlining Exon-Skipping Artisense Oligonucleotide Therapy Development Via a High-Throughput Approach
Logan Newton
Graduate Student – PhD Candidate
Costain / Deshwar Labs
Detection of ATAD3 Duplication in a Highly Homologous Genomic Locus by Combined Short – and Long-read DNA/RNA Sequencing
Neta Pipko, MHSc
Research Genome Analyst
Marshall Lab
Rare Disease Day Trainee Speakers
Disruption of the Mediator Complex Subunit MED8 causes congenital malformations in humans
C’airah Ceolin
Graduate Student – PhD Candidate
Deshwar Lab
Development, Stem Cell & Cancer Biology / Genetics & Genome Biology, SIckKids
Winner
Pooled CRISPR-Prime Editing enables High-Resolution Mapping of TAFAZZIN Variant Function
Carmela Serio Carrero
Graduate Student – PhD Candidate
Moffat Lab
Genetics & Genome Biology, SIckKids
Rare variants in small nuclear RNA genes reveal a Splicing-related Gnetic mechanism in autism spectrum disorder
Nickie Safarian, PhD
Research Fellow
B. Trost Lab
Molecular Medicine / Genetics & Genome Biology, SIckKids
A big THANK YOU to our sponsors
