Rare is many - International Rare Disease Day

Background

The 28 of February is International Rare Disease Day, an opportunity to raise awareness around rare diseases and improve access to treatment and medical representation for individuals with rare diseases and their families.

There are over 300 million people living with one or more of over 6000 identified rare diseases around the world. Although individually uncommon, there are approximately 400,000 children in Australia with a rare disorder for which there is no cure.

Our work in rare diseases 
There is an undeniable need to accelerate research and clinical care for children with rare diseases. Below are some of our work in Advanced Therapeutics, which encompasses gene therapy and other personalised medicine approaches that aim to transform the lives of children with rare genetic and acquired disorders by offering a treatment:

Gene therapy & Spinal Muscular Atrophy
The successful treatment of infants with Spinal Muscular Atrophy (SMA), a (rare) leading genetic cause of infant death in Australia, by repairing/replacing faulty genes (gene therapy) is changing the way we are able to treat genetic rare diseases. Research has shown that treatments for this inherited infantile type of motor neuron disease work best when given early as motor neuron loss is irreversible. A pilot newborn screening program (NBS) for SMA, funded by NSW Department of Health and supported by Luminesce Alliance has screened over 200,000 babies and enabled early diagnosis and access to new treatments to improve health outcomes, read more here.

Success in the treatment of SMA is not only wonderful for affected infants and their families, but also a powerful demonstration of what will rapidly become possible for a host of other conditions that are currently either difficult or impossible to treat - Prof Ian Alexander, Head of the Gene Therapy Research Unit, initiative of Children’s Medical Research Institute (CMRI) and The Children’s Hospital at Westmead 

Our research has demonstrated the feasibility of NBS to detect SMA and those affected have unanimously supported the program. This is detailed in a recently published study “We needed this”, led by Dr Didu Kariyawasam and A/Prof Michelle Farrar focussed on the perspective of parents and healthcare professionals involved in the NBS program, read the full study here.

Evidence has shown that early diagnosis and treatment of spinal muscular atrophy leads to better outcomes. The in depth feedback we have received from families and clinicians during the newborn screening SMA pilot, provide vital information on key implementation areas including provision of safe, acceptable, equitable and high-quality care - Prof Michelle Farrar, Associate Professor in Paediatric Neurology at UNSW Sydney and specialist child neurologist at Sydney Children’s Hospital, Randwick

​Spinal & brain inflammation – James’s story
James was 3 years old when his family noticed a decline in his ability to walk and within 10 days, he was unable to walk independently. A/Prof Fabienne Brilot-Turville, Prof Russell Dale and the team at Kids Neuroscience Centre were able to develop a test to identify the treatment for James’s rare condition which caused his spinal cord and brain to be inflamed. Watch the full news coverage here.
 

It is wonderful to see how our work in the laboratory can result in amazing outcomes and prevent a life of disability - A/Prof Fabienne Brilot-Turville, Head, Brain Autoimmunity, Kids Neuroscience Centre

As part of our hospital, we are making world discoveries finding the cause of spinal inflammation. We hope that our research continues to help other children like James, with rare diseases" - Prof Russell Dale, Clinical Director, Kids Neuroscience Centre

Click here for more of our patient stories this Rare Disease Day