Melbourne researcher Dr Peter Houweling is growing mini-muscles in the lab, in order to study muscular dystrophy in children, without the need for invasive and painful tissue biopsies.
“Basically, we take an ordinary blood sample and regress those cells back to their stem cell state. From there, we can encourage the stem cells to develop into skeletal muscle,” explains Peter, who leads the muscle research group at Murdoch Children’s Research Institute.
This project uses recent technological advances that reverse-engineers stem cells out of blood or skin samples from patients with muscle disease. It has been selected for the Foundation’s Matched Funding Program.
Peter’s study is partnering with a clinical trial led by paediatric neurologist Dr Ian Woodcock that is testing the benefit of creatine supplements for children with the rare genetic disorder facioscapulohumeral muscular dystrophy (FHSD).
Like all muscular dystrophies, FSHD is a gradual wasting disease that targets certain muscle groups. Patients may lose the ability to walk, use their arms, talk, or even swallow without aid.
“The clinical trial will assess the effect protein supplements have on young people with FSHD. We’ll use blood samples from the same participants for our stem cell replicas and administer the same supplements in the lab. By comparing results, we can test how accurately we’re modelling real-life muscular dystrophy,” says Peter.
This study will potentially unlock one of the major barriers to treating rare diseases, particularly in children: the lack of samples for lab research, which currently only come from biopsies.
Healthy (left) vs patient-derived skeletal muscle fibres
“It’s a horrible disease. Spending time working with Dr Woodcock and his patients made me realise that there’s just so much more we could be doing in the lab for these kids,” says Peter.
The Foundation grant allowed Peter and his colleagues to secure a $50,000 matched donation from community partner, the Muscular Dystrophy Foundation Australia, and has also opened doors to other philanthropic donations.
“Having the endorsement of a trusted name signals this is a serious study, with a real chance of transforming treatment for this terrible disease,” says Peter.
Donations from the public allow the Foundation to keep funding our half of the contribution to important treatment research projects selected for our Matched Funding Program. If you would like to support us with a donation, visit: www.stemcellfoundation.net.au/donate.