It's hoped affordable new treatments will be created to help fight childhood genetic muscle diseases following the establishment of an Australian first biobank.
The National Muscle Disease Bio-databank will be a collection of blood tests and skin biopsies from children across the country housed at the Murdoch Children's Research Institute in Melbourne.
Scientists will study their cells, genes and proteins in a bid to understand why children develop the diseases.
About 30 people are diagnosed with a congenital muscular disease every year in Australia and there is a genetic link for about half of all patients.
Treatments are focused on maintaining mobility and other functions in palliative care.
Currently, each state organises their own genetic testing but until now there has been no national database to match clinical information with diagnosis.
The project will be co-led by the institute, Monash University and Alfred Health and created as part of a $2.5 million Medical Research Future Fund grant.
Alfred Health's Professor Catriona McLean said patients and families do not have effective treatment options and were left without answers to questions about potentially-fatal disorders.
"Much of this clinical uncertainty stems from a lack of insight into the disease, which requires innovative thinking and investment into additional programs that can advance beyond genomics," she said.
Bindushree Pathre's daughter Ivani was diagnosed with congenital muscular dystrophy at four months old and over the past four years their family has had to be very careful about where they go in case she picks up an infection.
The biobank has given Ms Pathre hope that new treatments can be developed for the disease, which has left her daughter immobile without the strength to feed herself.
"I wish one day that no other parent has to hear their child has muscular dystrophy and watch as their condition keeps getting worse as they age with no treatment available," Ms Pathre said.
"It's heartbreaking and no parent should have to endure that pain."
