Gene mutation explains heart defects in children

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A new groundbreaking study sheds light on a medical question scientists have long wondered: why do 40 per cent of children with the rare neurodevelopmental disorder KBG syndrome have heart defects? The research now points to a critical link between the heart and the brain.

University of AlbertaJul 3 2024

Anastassia Voronova, an associate professor in the Faculty of Medicine and Dentistry, led the study, with cutting-edge Vizgen Merscope technology and the U of A's Core Research Facilities team. This team's research follows their previous work published earlier this year, which showed the importance of ANKRD11 to the development of brain cells. These findings in mice were also found in KBG syndrome patients, leading to the discovery of a novel clinical phenotype -; the absence of smell.

 

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