WA Patients Given Life-Changing Diagnoses

June 19th, 2008 - Media Statement

Almost 20 West Australians suffering from devastating muscle disease have been given a life-changing diagnosis, thanks to the collaboration of local researchers and a visiting Canadian Professor.

Alongside a team at the Western Australian Institute for Medical Research (WAIMR), visiting Raine Professor Bernard Brais and Royal Perth Hospital's Dr Phillipa Lamont, have joined together isolated pieces of the neuromuscular disease puzzle to identify the specific conditions crippling WA patients.

Professor Brais said the collaboration had meant many WA patients had now been successfully diagnosed and two more were awaiting results of genetic testing to confirm their diagnoses.

"My visit here to Perth has been one of my most memorable and successful international visits because we've been able to give patients and their families an answer to long-held questions about what it is that's affecting them," he said.

Professor Brais is based at the Department of Medicine, Université de Montréal in Canada and has identified many new neuromuscular conditions, more frequent among French-Canadian patients.

"Essentially, I came with a 'shopping list' of symptoms and genetic conditions we've seen in Canada, then went looking for similar cases in WA patients, in the hope of finding patients with similar diagnoses in both countries," Professor Brais said.

"As a result of analysing the symptoms and DNA of WA patients, the WAIMR team, Dr Lamont and I have been able to pinpoint the actual conditions causing their symptoms."

Neuromuscular diseases cause muscle pain, spasms, loss of muscle control and can lead to paralysis, and people affected often require 24 hour care.

Head of the WAIMR research team, Professor Nigel Laing said the findings were a big leap forward in WA research and a huge relief for many families.

"These patients have been living with these progressively devastating muscle diseases for years, so having a concrete diagnosis is a tremendous relief for the patients and their families, and we'll now be able to give answers to families in the future," he said.

"What we have achieved here is a fantastic demonstration of how WA researchers are working in an international arena to make potentially life-changing discoveries."

"Collaborating with Professor Brais, we have developed a wealth of information from both Canada and WA to give us a deeper understanding and insight into these muscle diseases and help us answer more questions in our quest for better treatment and a cure."

Professor Brais, whose Australian visit began in January and ended in May, praised the team at WAIMR and said the trip had been a wonderful achievement.

"The facilities WAIMR has are world-class, and it has been a fantastic experience working alongside Professor Laing and his team of scientists," he said.

"I have been impressed by the standard of facilities and capabilities of Western Australian researchers and we will certainly continue to work together to unravel the answers to neuromuscular disease."

Professor Brais' visit to Perth which saw him work alongside three key WA research teams headed by WAIMR's Professor Nigel Laing and Professor Lyle Palmer, and Royal Perth Hospital's Dr Phillipa Lamont, was funded by the Raine Medical Research Foundation.

"My whole family had the opportunity to come to Perth with me and the trip has been invaluable for all of us, my daughter has polished her English and made some great friends attending school here," Professor Brais said.

"It has been wonderful to experience the Aussie lifestyle and forge new ground here in WA, so we will all be sad to leave, but look forward to a long friendship."

For more information please contact:
Sarah Hayward
Media Consultant for the WA Institute for Medical Research
Mobile: 0411 404 415
Office: (08) 9388 9280