WAIMR Director Professor Peter Klinken said he was thrilled WAIMR was playing such an integral part in helping tackle devastating muscle diseases.

"The persistence and determination shown by Professor Laing and his team over many, many years is nothing short of inspiring," he said.

"They've asked some big questions in their quest to find a cure for this Floppy Baby Syndrome and have worked tirelessly to find the answers to those questions in the hope of helping families across the world.

"Research institutes like ours exist to help people live healthier lives and I am delighted at the important discoveries we are making in this field."

This research has been funded by the National Health and Medical Research Council, WAIMR and a number of patient support groups including the Association Fran?§aise contre les Myopathies (French Muscular Dystrophy Association) and the US Muscular Dystrophy Association.

The research project centred at the WAIMR laboratory was a collaborative effort with groups at the Medical Research Council and the University of Oxford in the United Kingdom, Cincinnati Children's Hospital Medical Center as well as the Centre for Microscopy, Characterisation and Analysis at the University of Western Australia and Perth-based Proteomics International which have also assisted the team's work.

Floppy Baby Syndrome

The skeletal muscle actin mutations which cause congenital myopathies can be classified into five individual diseases which affect thousands of families worldwide. Children with recessive muscle actin diseases have no skeletal muscle actin because of mutations in the skeletal muscle actin gene which "knock out" the gene function. In Australia, dozens of families are affected by congenital myopathies which bring high emotional costs and personal suffering, as well as financial and community burdens.

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