Alan's story: a life-changing diagnosis through genome sequencing (UPDATED)
24 September 2016
Alan is one of the first people in Australia to receive a diagnosis from whole genome sequencing that has changed his treatment – and, in Alan’s case, transformed his health.
Once gravely ill with an immune condition that was destroying his own cells, Alan is now an energetic boy who delights in Lego adventures and light-sabre duels. His medical saga is not yet over, but the improvement in his condition has been immense.
Alan’s remarkable story is one of close collaboration between his clinicians at Sydney Children’s Hospital, Randwick and researchers at Garvan. It’s also a story of world-leading technology that is capable of rapid, high-quality genome sequencing and analysis, and of a dedicated search for answers by his parents and his clinical team.
We invite you to learn more about Alan, his story and the research and technology that has changed his life in our in-depth web feature.