New Genetic Discovery Restores Mobility in Children with Rare Neuromuscular Disease

rare neuromuscular disease

Approximately 50% of children admitted to paediatric hospitals have an underlying inherited condition. These inherited disorders, though individually rare, are collectively the most common cause of severe disability in childhood.

A collaborative success by Sydney Children’s Hospitals Network and University of Sydney’s Professor Sandra Cooperalong with her team at Kids Neuroscience Centre (Kids Research) and colleagues at Max Planck (Göttingen) defined a new mechanistic basis for genetic conditions, devised a diagnostic method to detect this class of genetic variant, and identified twenty-five affected families around the world who have this type of genetic variant. The research entitled ‘Pathogenic abnormal splicing due to intronic deletions that induce biophysical space constraint for spliceosome assembly’ has been published in The American Journal of Human Genetics (AJHG).

 “The ability to obtain a precise genetic diagnosis is a key step for every family affected by a rare inherited disorder as it not only allows them to be eligible for clinical trials, receive personalised medical care but also enable family planning.” – Professor Cooper, Joint Head of Kids Neuroscience Centre.

The discovery of the genetic mechanism of the underlying condition has allowed the appropriate treatment, in this case salbutamol (ventolin) – a common asthma medication to be used in two siblings with a rare neuromuscular disease. The research that led to this precision therapy has successfully restore mobility in the siblings, allowing them to now stand, walk and drive.

The male sibling now aged 25 years of age stated:  “I don’t even know the right words, that would be an understatement. I can get out of my wheelchair and I can do everything independently. I can drive myself to work, stay at a mate’s house, use their bathroom – all these problems that I once had, these barricades, they are just gone now.”

“Defining this new mechanism will diagnose families with different genetic conditions around the world – and a precise genetic diagnosis will enable precision medicine for many.” – Professor Cooper, Joint Head of Kids Neuroscience Centre.

For the full published study, please visit: 

Pathogenic Abnormal Splicing due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly