New U of A study shows heart-brain connection in KBG syndrome

Photo: Faculty of Medicine & Dentistry

A groundbreaking study by Department of Medical Genetics associate professor Anastassia Voronova and her team has provided clarity on the heart-brain connection in KBG syndrome, a rare genetic neurodevelopmental disorder.

Heart defects are often found in children with rare neurodevelopmental disorders, but scientists aren’t sure why.

KBG syndrome can cause unusual facial development, skeletal abnormalities, intellectual underdevelopment and heart defects. The syndrome is caused by mutations in the ANKRD11 gene, which plays a crucial role in brain development.

Despite its known effects on the brain, the role of ANKRD11 in heart development was not known until now. This study, enabled by the cutting-edge Vizgen Merscope technology and the U of A’s Core Research Facilities team, will hopefully pave the way for improved diagnosis, clinical care and treatment.

Read the full story on the Faculty of Medicine & Dentistry website