Updated on 10 June 2013
The international study was coordinated largely by the paper's lead author, Assistant Professor Gina Ravenscroft, who is based at WAIMR's Nedlands campus. "Our research began with a Western Australian couple whose baby died after five days and a Turkish couple who tragically lost three babies in a row," she said. "As our study expanded, researchers around the world studied DNA samples from families in countries including Japan, Vietnam, France, Turkey, Italy, Israel and Sweden," she added. "It's wonderful to make a discovery that benefit couples all over the world who unfortunately carry these terrible diseases, and we couldn't have done it without the DNA sequencing facility established here in WA. Our next-generation sequencing technology allowed us to coordinate this huge study, involving 26 institutes around the world, from Perth, Western Australia," said Dr Ravenscroft.
Professor Laing said mutations found in the gene were modeled in zebrafish both in Japan and at Monash University in Melbourne so researchers could learn more about the way the KLHL40 mutations affected muscle development and function. "We're a very collaborative family of people around the world working in muscle diseases," he said. "Having pre-natal or pre-implantation screening for this particular gene will save parents of many nationalities a lot of heartache," said Professor Laing.
The team and collaborators are now working to find more of the genes responsible for this severe type of nemaline myopathy.