Project title:

Understanding the genetics of childhood diseases with Next Generation Sequencing

Chief Investigator:

Associate Professor Leanne Dibbens

Funding Amount:

$70,000

Recipient:

University of South Australia

Overview:

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.

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