Understanding the genetics of childhood diseases with Next Generation Sequencing
Associate Professor Leanne Dibbens
University of South Australia
The majority of childhood diseases do not receive a specific molecular diagnosis. By utilizing the latest in Next Generation DNA Sequencing technologies we can change this. We can now relatively rapidly sequence affected children as well as their affected /unaffected parents and relatives to hunt down the gene(s) causing the disease. This can now be achieved in a few months instead of many years. We will study difficult to solve childhood patients with Neurological disorders referred to us by the Women’s and Children’s Hospital in Adelaide.