Thesis: Identifying mitochondrial-endoplasmic reticulum tethering complex variants in amyotrophic lateral sclerosis to improve outcomes in therapeutic studies and patient care
Amyotrophic lateral sclerosis (ALS), or sometimes referred to as motor neuron disease (MND) is an incredibly complex neurodegenerative disease. My research project explores energy and protein homeostasis in ALS patients as a core dyfunction in neurons. My aim is to characterise novel genetic variations involved in the mitochondrial-endoplasmic reticulum complex. These genes will be further evaluated and investigated in patient DNA and cells.
I will follow patients over the course of their disease to better understand the genetic link with a clinical presentation.
Why my research is important
The average patient diagnosed with ALS, succumbs to their disease within 5 years of diagnosis. The vast majority of patients do not have a genetic mutation that attributes to their diagnosis. My research will aim to identify genetic variants which may portray susceptibility to patients who may progress in a similar fashion.