Rare Retinoblastoma Contributed Over 50 Years to Understanding Cancer: Can We Now Reach Every Child?

Wednesday, December 18, 2024 | 2:00 to 3:00 p.m. ET

Brenda Gallie, M.D., FRCSC, CM, OOnt

Professor, Departments Ophthalmology, Medical Biophysics, and Molecular Genetics

University of Toronto

brenda@gallie.ca

Website

Brenda Gallie is Professor in Medical Biophysics, Molecular Genetics, and Ophthalmology. She directs the Retinoblastoma Program at the Hospital for Sick Children. She received The Order of Ontario and Membership, Order of Canada for delivering personalized medicine and predictive genomic studies to families. To address the global disparity of cancer care and outcomes, she developed point-of-care cancer site-specific databases, now supporting global collaboration and treatment guidelines.

The Gallie lab since 1974 has focused on all aspects of the rare children' s eye cancer, retinoblastoma, including molecular pathogenesis and clinical impact. We identified that somatic inactivation of the RB1 gene initiated retinoblastoma tumors, pointing to the role of tumor suppressor genes in cancer. If the first mutant RB1 allele (M1) arises in the germline, it predisposes to bilateral retinoblastoma and multiple other cancers, when the second allele (M2) undergoes somatic inactivation in embryonic retina and other tissues. We went on to characterize key M3 genetic changes in retinoblastoma progression and the genes involved (KIF14, CDH11, E2F3/DEK, and MYCN).

Summary

eCancerCare^RB (eCC^RB) has facilitated retinoblastoma circle of care communication and research at SickKids since 2001 by collecting and visually displaying point-of-care retinoblastoma data, including fundus drawings. Updated on a secure Microsoft Azure environment, DEPICT HEALTH (DEPICT) will extend eCC^RB worldwide with inclusion of families. Access to eCC^RB historic propensity-matched controls in Phase I study of sustained-release of chemotherapy (Chemoplaque), revealed sustained response of intraocular retinoblastoma with minimal toxicity. For ALL children affected by retinoblastoma, DEPICT can support communication and evidence-based care in a learning health system.

Learning Objectives: 

1. Rare is a scientific Opportunity 
2. Direct patient data can support future research
3. Global collaboration including patients is fun

https://videocast.nih.gov/watch=55013