Families around the world are reaping the benefits of genetic research into muscle disease at the Harry Perkins Institute of Medical Research in Perth.
|Dr Gina Ravenscroft and Giacomo|
Dr Gina Ravenscroft, who is currently on maternity leave with four month old Giacomo, is one of the scientists at the forefront of research into a genetic disorder which causes a lack of movement, and frequently starts before babies are born.
“Even though Giacomo was born prematurely, he is already an active boy, kicking his legs and smiling a lot,” she says.
“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.”
“I feel very blessed to have a healthy baby in Giacomo and we’re enjoying watching his personality develop. I think everybody should have the opportunity to have a strong little baby join their family.”
The Perkins’ Neurogenetic Diseases Group is headed by Winthrop Professor Nigel Laing. Their discoveries, including identifying two new genes for nemaline myopathy last year KLHL40 and KLHL41, have led to medical tests which determine whether a family is going to have a healthy baby.
Recently the team received an email about a family from Turkey, who now have a healthy baby after two previous pregnancies ended in the infants dying shortly after birth.
Professor Laing said the Group’s most recent paper, was particularly important.
“I had wanted to find the genes that severely affect these patients since 1996,” he said. “Now, we’ve not only found the genes but we understand the mechanisms underlying this disease.
“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 says she will continue her research when her maternity leave ends in January. “I want to help provide answers for the families we work with,” she says.
The important new paper has been published by the Journal of Clinical Investigation. The lead author was Professor Eric Olson from the University of Texas Southwestern Medical Center in Dallas.