Assistant Professor Gina Ravenscroft from the Harry Perkins Institute of Medical Research has won the Raine Medical Research Foundation 2014 Strachan Memorial Prize.
The prize is awarded annually to a Western Australian early-career researcher in the field of medical/health science for the most outstanding publication that translates medical science into health outcomes.
Gina’s paper Mutations in KLHL40 are a frequent cause of severe autosomal-recessive Nemaline Myopathy was published in the American Journal of Human Genetics.
Her study looked at 143 multinational families with a history of a serious muscle weakening disease, called nemaline myopathy (NEM), and successfully identified 19 mutations in 28 unrelated NEM-affected families.
The research showed that KLHL40 plays a key role in muscle development and function.
“Most of the patients with this NEM died soon after birth, sometimes within hours. There was one family, where five of their seven children died within an hour of being born. So it’s a very severe disease,” Gina said.
As a result of the research, families now have the opportunity to screen KLHL40 for mutations.
“The translation of this research is that it gives couples an opportunity to screen the gene and then have family planning options. So even though we haven’t cured it and we don’t know exactly how this protein works, it’s still a really important finding for the families to know what the cause of their disease is,” Gina said.
Gina works in the Neurogenetic Diseases Laboratory, alongside Professor Nigel Laing, investigating how mutated genes cause disease, specifically for congenital muscle diseases. Their research also aims to identify and develop therapeutics for patients.
The prize will be awarded tonight at the Raine Medical Research Foundation Awards ceremony.