SYNOPSIS

The complexity of diagnostic techniques for paediatric genetic conditions has increased exponentially in the last two or three decades. In tandem with this, paediatric subspecialists are dealing more and more with increased parental expectations for rapid diagnosis and effective management. In my subspecialty – paediatric neuromuscular disorders- there has recently been a rapid increase in the number and complexity of clinical trials for a variety of uncommon but severe disorders. The possibility of definitive therapies for these disorders is increasing pressure for rapid diagnosis, creating a new clinical and financial load for hospitals, and impacting upon standards of care for all children affected by these conditions. This presentation will discuss the practical and ethical challenges of dealing with complex and evolving diagnostics and therapeutics for rare genetic conditions in our public hospital system in 2016.

SPEAKERS

Professor Monique Ryan is Director of the Department of Neurology at The Royal Children’s Hospital, Melbourne Australia, where she is head of the neuromuscular clinical research program and multidisciplinary Neuromuscular Clinic. This clinic oversees the care of more than 550 children with neuromuscular disorders. Prof. Ryan’s research interests include natural history and genetic studies of paediatric neuropathies and other paediatric neuromuscular disorders. Her group has been involved in trials of novel therapeutics for Duchenne muscular dystrophy, spinal muscular atrophy, Charcot-Marie-Tooth disease, Friedreich ataxia and ataxia telangiectasia.