Genetic conditions are the leading cause of death in children in high-income countries. Accurate and timely diagnosis is critical for being able to provide prognostic information and guide treatment, yet often takes many years.
The Complex Movement Disorders program at the Royal Children’s Hospital commenced in 1997 and has evolved since then. It is currently funded by RCH Foundation and the fundraising efforts of A/Prof Andrew Kornberg’s Fly for the Kids event in 2017. The program allows coordinated multidisciplinary assessment and management of children with movement disorders and associated neurodevelopmental comorbidities.
There has in recent years been a rapid increase in the number and complexity of clinical trials and novel therapies for neurogenetic conditions. Many of these conditions are individually rare, but their impact upon affected children and their families may be very severe. While the increasing awareness and availability of new treatments brings great hope and excitement for all involved in care of these children, it also presents significant challenges for clinicians and for patients and their families.
This Grand Round, presented by Dr Annapurna Poduri from Boston will explore the role of genetics in epilepsy and the importance of pursuing genetic diagnoses in patients with epilepsy as a step toward refined treatment and precision medicine strategies. Dr Puduri will emphasize the importance of integrating what we know from the clinic into clinically relevant model systems.
This Grand Round will present data on the latest clinical trials in Friedreich ataxia, haemochromatosis and inherited skeletal disorders (achondroplasia and Schmid chondrodysplasia).
It is now recognized that genetic factors are the major cause of intellectual disability and autism. This presentation will provide an overview of recent advances in our understanding of these genetic factors and the application of new genetic testing technologies to provide an answers for individual families.
In today’s industrialised, globalised world, we live to extreme old age. But this extended life span comes with a trade-off: our DNA is now out of sync with our environment. We can live for eight, nine, even ten decades, while the use-by date on our DNA is closer to 40-50 years. That means people spend their later years living with the diseases of ageing. If our DNA is lettering us down, why shouldn’t we alter it to suit our environment?
