The National Institute of Health (NIH) in the United States has established a collaborative research effort with the University of Malaya (UM) to characterise the C9ORF72 gene in patients with amyotrophic lateral sclerosis and/or frontotemporal dementia (ALSFTD). The objective of this project is to search for a possible explanation on why patients with ALSFTD have different degrees of disease severity.
ALSFTD is a familial neurodegenerative disorder, characterized by a combination of severe muscle paralysis, development of dementia and other psychiatric symptoms. In contrast, patients with the more common form of pure ALS (also known as ‘Lou Gehrig disease’) suffer from muscle paralysis while maintaining intact cognitive function. While the genetic mutation of C9ORF72 in ALSFTD has already been described by DeJesus-Hernandez et al and Renton et al in 2011, it remains unclear how the different forms of the C9ORF72 gene mutation is correlated with the severity of ALSFTD.
This project is currently at its earliest stages. The PacBio II sequencing technology has been selected to sequence the C9ORF72 gene in patients with ALSFTD. Dr. Chan Kok Gan (UM High Impact Research) will be contributing his expertise in sequencing while Dr. Andrew Pliner (NIH) will be performing the bioinformatics analyses. It is hoped that findings from this study would contribute to developing a more accurate way to prognosticate ALSFTD patients and consequently, better management for this group of patients.