Elise Heon

Research Synopsis

 Dr. Héon’s current research focusses on the genetic characterization of inherited retinal disorders when clinical genetic testing did not identify the disease-causing variant(s). Using Genome sequencing and sophisticated analytical protocol, her group has been successful in deciphering nearly 80% of cases. Dr. Héon has a specific interest in disease cause by genes affecting cilia, ciliopathy, namely Bardet Biedl syndrome. Using cells from patients and high throughput drug screening through the SPARC facility, her groups is trying to identify small molecules that may improve patient outcome. Lastly, Dr. Héon is exploring patient reported outcome measures (PROM) for IRD and especially in children, which would best represent the impact of the visual impairment on the patient daily living.