$600,000 to lead a revolution in diagnosing childhood disease [20.07.2010]

The Trust is proud to announce its first Partnership grant under our new Grants policy. A total of $600,000 over three years has been gifted to the Royal Children’s Hospital for groundbreaking research led by Professor Andrew Sinclair into the development of a diagnostic platform for children with Disorders of Sex Development (DSD). The ultimate aim is for this to lead to the development of a rapid, cost effective and flexible platform for diagnosing a range of genetic disorders. Up to 5% of children are born with a significant genetic disorder. These disorders have a significant lifelong impact on the affected individual and their families, and society.

Instead of trying to develop a diagnostic platform for a range of conditions, the researchers will focus on a detailed analysis of DSD using Targeted Diagnostic Sequencing in order to test the efficacy of this approach for broader application. DSDs are surprisingly common, ranging from sex reversal to genital anomalies (1 in 4,500) to hypospadias (misplacement of the urethral opening) which affects an astonishing 1 in 135 boys, most of whom require surgery.

In many cases for doctors, even though they may know a particular disorder has a genetic origin, it is not possible to identify the specific causative gene. This means it is often difficult to diagnose the genetic disorder and pinpoint where the normal developmental process has gone wrong. As a consequence, the treating doctor is essentially “flying blind” in terms of best clinical management – interventions, therapies, medication or counselling – for a patient with an undiagnosed genetic disorder. Clinical management would dramatically improve if such a diagnostic platform can be developed. The research is a collaborative project between the Royal Children’s Hospital and Murdoch Childrens Research Institute.