Motor Neurone Disease Genetics and Therapeutics Research at the Perron Institute, lead by Professor Anthony Akkari, aims to identify genetic mechanisms and mutations in neurological conditions, particularly motor neurone disease (MND), with the aim of developing personalised treatments.
In particular, the research aims to develop effective drug therapies for MND that focus on genetic information known as Genomic Structural Variations (SVs). Genomic SVs occur in and around genes, they can vary in length and play a role in regulating how genes are expressed. Different lengths of structural variations are associated with diseases such as Alzheimer’s and MND.
A growing body of evidence is beginning to show that they are involved in many diseases and may be particularly important in neurodegenerative diseases such as MND.