New genes found

Researcher Gina Ravenscroft with her son Giacomo.
Researcher Gina Ravenscroft with her son Giacomo.

Dr Ravenscroft, from the Harry Perkins Institute of Medical Research, is one of the scientists at the forefront of research into a genetic disorder that causes a lack of movement in babies.

‘Our research is into a genetic muscular disorder called nemaline myopathy and it’s very sad because these babies have very severe muscle weakness and poor quality of life if they survive,’ she said.

‘I feel very blessed to have a healthy baby in Giacomo and I think everybody should have the opportunity to have a strong little baby join their family.’

Headed by Winthrop professor Nigel Laing, the team’s research identified two new genes for nemaline myopathy.

‘We’ve not only found the genes but we understand the mechanisms underlying this disease,’ he said.

‘This is an important step forward from our previous research and is a great result for Dr Gina Ravenscroft, one of our talented Perkins researchers.’

Dr Ravenscroft said she would continue her research when her maternity leave ends in January.