Stephanie Telesca is a genetic counsellor, advocate, and patient leader whose work bridges prenatal genetics, rare disease, and precision medicine. She earned a Bachelor of Science in Biology from Queen’s University in 2009 and a Master of Science in Human Genetics from Sarah Lawrence College in 2013. Stephanie practices as a prenatal genetic counsellor at the Ontario Fetal Centre at Mount Sinai Hospital in Toronto, helping individuals and families understand and navigate complex reproductive and genetic decision-making through compassionate, family-centred care.
In 2021, Stephanie’s daughter was diagnosed with KCNC1-related disorder, an ultra-rare genetic condition with fewer than 100 reported cases worldwide and only one other known child sharing her specific genetic variant. This experience profoundly reshaped Stephanie’s relationship with genetics, bringing together her professional expertise and personal experience as a parent navigating the uncertainties of rare disease. In response, Stephanie and her husband founded the KCNC1 Foundation to accelerate research, foster scientific collaboration, and build an international community connecting families affected by the condition.
Through this work, Stephanie has helped create a collaborative model that brings together families, clinicians, researchers, and industry to accelerate progress in ultra-rare disease. Her work has been recognized through invitations to speak on patient partnership, rare disease, and the future of genetic counselling, including as a family advocate panelist at N-Lorem's inaugural conference (2024), the Canadian Association of Genetic Counsellors Plenary Session (2024), and the Southern California University of Health Sciences Integrative Health Conference (2026). She also serves on the Genetic Medicine Board within the Precision Child Health Genetic Medicine Program and the Precision Child Health Advisor Hub at SickKids.
With support from the Marty Memorial Fellowship, Stephanie will host the inaugural KCNC1 Patient and Scientific Conference and launch an international KCNC1 patient registry and natural history study to accelerate research, strengthen collaboration among families, clinicians, researchers, and industry, and advance therapeutic development. Faced with uncertainty and limited answers, she discovered that hope is not simply something we hold onto, but something we build through perseverance, collaboration, and action. She believes that lived experience is not separate from scientific progress—it is essential to it—and that families are indispensable partners in shaping the future of precision medicine.
