Neurogenetic diseases

Research overview
The Neurogenetic Diseases Laboratory is one of the world's foremost research groups in the investigation of the genetic causes of muscle diseases.

Disease gene discovery

One major part of the Laboratory’s work is discovering new disease genes. The International Rare Disease Research Consortium (IRDiRC) aims to find all the causative genes for Mendelian disease genes by the end of 2020. The IRDiRC estimates that the final number of such disease genes will be around 6,000 genes. Currently 3,500 genes are known, which means around 2,500 are yet to be found. This means that all of us around the world trying to find these disease genes need, between us, to find more than one new disease gene a day, if the goal of finding them all by 31st December 2020 is to be reached.

Since 2013 the Neurogenetic Diseases Laboratory has published seven novel disease genes CYC1, KLHL40, KLHL41, SPEG, LMOD3, MTOR and GPR126.  The Laboratory is currently validating another five candidate novel disease genes. We are playing our role in the principal goal of IRDiRC.

The Neurogenetic Diseases Laboratory was the first in the world to identify a gene for one sub-group of muscle diseases present at birth (the congenital myopathy nemaline myopathy) and has been part of identifying eight out of the ten genes now known for this disease, including KLHL40, KLHL41 and LMOD3 in the list above. 

The Laboratory's disease gene discoveries have helped families all round the world know the cause of their children's disease.

Development of improved diagnostics

The Perkins Neurogenetic Diseases Laboratory is closely associated with the diagnostic Neurogenetic Unit in PathWest, the laboratory arm of the Western Australian Department of health.  Since 2012, the Neurogenetic Diseases Laboratory has been a member of the NH&MRC Centre for Research Excellence in Neuromuscular Disorders, with the role of developing next generation sequencing based diagnostics for neuromuscular disorders. This goal has been achieved and implemented in the PathWest Neurogenetic Unit, resulting in a much higher percentage of neuromuscular disorder patients receiving an accurate molecular diagnosis than was possible previously.

Development of therapies

Development of clinically applicable therapies is another major goal of the Laboratory. We are researching possible treatments for diseases where we have identified the genes, most notably the skeletal muscle actin (ACTA1) diseases, where we have shown experimentally that heart actin is a candidate to use for treating the skeletal muscle actin diseases. 

Prevention of genetic disease

Couples who have had a child with a severe neuromuscular disorder, wish to avoid further affected children. The only way this can be achieved is through knowing the precise molecular cause of the disease in the family through either improved diagnostics or novel disease gene discovery.  In certain countries, preconception carrier screening has been implemented as a public health measure to reduce the burden of genetic disease. (In Western Australian society nearly 50% of deaths before age 1 result from rare diseases, most of which are genetic.*) The Perkins Neurogenetic Diseases Laboratory, along with the Department of Health Office of Population Health Genomics, led a satellite workshop on preconception carrier screening at the European Society of Human Genetics Annual Scientific meeting in Glasgow, Scotland in 2015, aiming to inform possibilities for preconception carrier screening in Australia. The Satellite Workshop was a notable success, with subsequent policy and planning in progress.

The Perkins Neurogenetic Diseases Laboratory is thus playing a leading role on multiple fronts in a worldwide consortium of groups working towards defeating neuromuscular diseases. 

*Unpublished data of the West Australian Department of Health, Office of Population Health Genomics.

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