Deep sequencing of the C9orf72 GGGGCC-repeat expansion in Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD)

Neurodegenerative disorders are massive threats on our society as the ageing population grows. It is essential to gain a better understanding of the genetics and the mechanism to combat them. In this project, we focus on a DNA region that is known to cause the Motor Neurone Disease (MND) and Frontotemporal Dementia (FTD). This is a long stretch of DNA estimated to contain hundreds to thousands of GGGGCC repeat sequence. As this stretch of DNA is technically inaccessible by traditional DNA sequencing methods, the precise disease-causing DNA sequence of this region is still unknown and the disease-causing mechanism unclarified. In our department, we have acquired expertise and experience on a new technology, Nanopore sequencing, which has proven to be powerful and accurate on difficult DNA sequence. We plan to use this new technology to sequence the GGGGCC repeat region from patients of MND and FTD which will provide invaluable clues in unravelling the cause of neurodegeneration.