Ongoing projects

Drs. Olena Zhulyn and Philippe Major will develop powerful predictive models to optimize the therapeutic approach for Tuberous Sclerosis Complex (TSC). This disease causes tumors in vital organs, neurological disorders, and severe seizures that are drug-resistant in more than half of affected individuals. The goal of this project is to predict which patients will benefit from available treatments based on real-world data on genotype, phenotype, and drug response. Patients’ molecular profiles and observable traits will guide the development of personalized therapies.

Drs. Gregor Andelfinger and Aamir Jeewa will combine the resources and expertise of CHU Sainte-Justine and SickKids to identify the factors contributing to inter-individual variability in children with RASopathies. This group of genetic conditions shares certain phenotypic characteristics, such as the potential for heart defects, growth delays, and developmental delays. To establish the link between genetic anomalies and observed manifestations—as well as the causes of inter-individual variability and the long-term progression of RASopathies—the researchers will collect clinical data from electronic medical records and build a biobank of blood samples from children with RASopathies. These data banks will then be analyzed to identify the genes involved in RASopathies and determine treatment responses based on genetic variations.

Drs. Sophie Tremblay and Julien Muffat will examine the mechanisms by which microglia—immune cells residing in the brain—influence brain injuries in newborns following birth-related complications. Strokes affect a large proportion of premature infants and often lead to cerebral palsy, intellectual disability, or other developmental disorders. Using innovative study models such as three-dimensional mini-brains grown in the lab from patient-derived stem cells, this team will address key gaps in translating microglial mechanisms to humans. These models will not only help better understand the determinants of neurological injuries but also allow testing of therapeutic strategies based on young patients’ clinical profiles.

ASO Connect aims to make ASOs (antisense oligonucleotides) more accessible to children and youth with rare diseases. ASOs are a promising new approach to treat genetic conditions. They are short, synthetic, single-stranded molecules designed to bind to RNA. This binding can regulate harmful transcripts, correct splicing errors, or increase protein expression to help treat rare diseases. The team plans to facilitate more proactive identification of children with genetic diagnoses that might be amenable to ASO treatment. Additionally, they aim to design ASO sequences in advance so they can be rapidly tested, speeding up pre-clinical development and ensuring scalability through an open-access platform.