2025 WCHRI Summer Student

New gene therapy for spinal muscular atrophy raises questions for parents and patients

Alexandra Cernat’s research was aimed at understanding how a new gene therapy for spinal muscular atrophy, or SMA, is changing the way parents and patients think about genetic testing and family planning.

SMA causes muscle weakness and is the most common genetic cause of death in children. Cernat studied the knowledge, perspectives and attitudes of SMA parents, carriers and patients toward gene therapy and genetic testing. This was a critical gap, as a new gene therapy for SMA was recently approved, but little is known about how it affects their decisions.

“Our project has the potential to touch thousands of lives, and I am grateful to be part of this work.”

Goals:

• Conduct a survey and interviews with individuals with experience with SMA.
• Understand their views on gene therapy, carrier and prenatal testing, and family planning.

Potential impact: Understanding the perspectives of those affected by SMA could help healthcare providers offer better support and resources. It may inform the counselling process for genetic testing and gene therapy, ultimately improving care for patients and their families.

Supervisor: Oana Caluseriu, associate professor, Department of Medical Genetics; WCHRI academic co-lead of the Translational Genomics Hub

Funders: Stollery Children’s Hospital Foundation and Alberta Women’s Health Foundation

Interested in doing research to improve the health of women and/or children? Read more about WCHRI’s training awards for students at all levels and generous grants for researchers.