Łukasz J. Sznajder (Biochemistry) participated in a large study led by the group at the Hospital for Sick Children in Canada. Their research focused on the hyper-unstable Chr9p21 locus associated with multiple diseases, including C9orf72-linked amyotrophic lateral sclerosis (ALS), and frontotemporal dementia (FTD). They showed that GGGGCC tandem repeat expansion in C9orf72 gene triggers vitamin-sensitive chromosome fragility. The article titled “C9orf72 repeat expansion creates the unstable folate-sensitive fragile site FRA9A,” has been hand-picked by Editor-in-Chief and published in the journal NAR Molecular Medicine.
