Lena Duchateau is a PhD student in the Sleegers Lab at the VIB-UAntwerp Center for Molecular Neurology, Belgium. Her aim is to help elucidate the genetic etiology of complex Alzheimer’s disease (AD). Her research has centered around transcript analysis of AD-risk gene ABCA7 using long-read and in-situ sequencing.

ABCA7 is an Alzheimer’s disease (AD) risk gene, in which our lab observed several novel splice events, suggesting a complex splicing profile. To study this profile, and its effect on AD, targeted MinION sequencing was performed on RNA extracted from lymphoblastoid cell lines and brain samples of 39 ABCA7 premature termination codon (PTC) carriers and 10 non-mutation carriers (57% AD patients). Alternative splicing was studied using an in-house R script and the full-length alternative isoform analysis of RNA (FLAIR) pipeline. Our results highlight a 4-fold increase of novel splice events, which seem to be increased in AD patients (p=7,6*10-4) and PTC mutation carriers (p<2.2*10-16).