PhD student in Biochemistry
Université du Québec à Montréal
Award-winning publication: Dysregulation of co-transcriptional alternative splicing underlies CHARGE syndrome
Published in: PNAS
CHARGE syndrome is a rare genetic disorder that affects approximately 1 in 10 000 newborns. It is characterized by a range of complex anomalies, most of which are associated with abnormalities in craniofacial features (e.g. cleft palate, facial asymmetry and ears) and organs (e.g. brain, heart, eyes and reproductive system). Until recently, the only know genetic cause was a mutation in the CHD7 gene. Relying on genetic screens of mouse models and experiments on patients' immortalized cell lines, Catherine Bélanger and her team were able to identify FAM172A, a largely uncharacterized causative gene in sufferers. These findings will help improve the diagnosis and treatment of CHARGE syndrome.