2013- The Fred Liuzzi Foundation funded its first research project at the Victorian Neuromuscular Laboratory at the Alfred Hospital under the professorship of Catriona McLean.
Project 1- Registries and databases constitute key instruments to increase knowledge on Rare Neuromuscular Disease and develop clinical research.
The research is a database analysis of Muscle Disorders – a unique Australian resource to improve our understanding of muscle diseases.
Since the 1980’s all 12,000 muscle biopsies that have come from Victoria and Tasmania have been diagnosed (or not) and entered into various data bases. More recently, they are all entered into one data base. Since the 1980s there has been an exponential increase in the knowledge about muscle and in particularly in various diagnoses. Many new and unknown diseases will exist within the database and are potentially keys to a better understanding of muscle disease. Professor McClean believes that this database contains a phenomenal wealth of untapped information and given enough time and effort she is convinced that ultimately the amount of material contained within it, has the capacity to unlock many new muscle diseases if we can carefully sort the database and combine this with new next generation sequencing (molecular) techniques. There are very few such databases of such capacity world-wide.
The approach to this research by Professor McLean is to take the database and sort it using conventional sorting mechanisms; whilst the aims of the project are not original or innovative, what is novel are the resource and the size of the resource; and that it could find novel diseases and novel genes ultimately.