Around 140,000 new cases of motor neuron disease (MND) are diagnosed globally each year, with ~2,000 Australians currently suffering from this fatal neurodegenerative disease. The progressive degeneration of motor neurons leads to muscle weakness, paralysis, and death within 2-5 years of symptom onset. MND is biologically complex, with gene mutations as the only proven cause.
The Macquarie Neurodegenerative Diseases Biobank (MQND Biobank) was established in 2013 as a research-clinical interface between the MND Research Centre and MQ Health Neurology Clinic at Macquarie University. The MQND Biobank aims to provide resources for MND researchers to perform integrative research, coupling clinical and demographic information with derivative omics data obtained from longitudinal biospecimen collections.
Since 2013, MQND Biobank has recruited 1,117 participants comprising 522 MND patients (39.5% F, average age 65±12.3 years) and 593 control participants (62.2% F, average age 58±15.3 years). Every 3-6 months, clinical data and biospecimens including DNA, RNA, plasma, serum, urine, and hair are collected. For a subset of participants, cerebrospinal fluid (CSF), fibroblasts, and post-mortem brain and spinal cord have been collected. The MQND Biobank currently holds 74,000 biospecimens with MND cases and control participants having an average of 3.9 and 2.9 longitudinal collections, respectively.
We have generated over 5,400 derivative datasets for MND patients and controls from the MQND Biobank and historical DNA collections including whole-genomes (blood- and brain-derived, n=1,088), whole-exomes (n=135), transcriptomes (blood-derived n=210, brain-derived n=165), methylation arrays (n=1,677) and SNP microarrays (n=2,343). Three-quarters of participants have 2 or more different datasets available.
We have established the largest MND biobank in Australia, which holds biospecimen-derived data and time-point matched clinical data. This comprehensive resource has been integrated to identify MND genetic causes and risk alleles, disease-specific gene expression profiles and biomarkers, and will be invaluable for future investigations of personalised medicine in MND.