Innovation to identify rare genetic disorders in NZ babies

Innovation to identify rare genetic disorders in NZ babies The ability to identify rare diseases in critically ill babies is being rolled out at Auckland Hospital, allowing for quicker diagnosis and treatment. There are around five deaths for every 1000 live births in New Zealand each year, and at least one of these is due to an undiagnosed genetic disorder of a baby in intensive care. There are 150,000 children with rare diseases, with fewer than half of them are diagnosed by the time they turn one – and some families can wait more than 10 years for an actual diagnosis. A new genetic sequencing facility, established by the Liggins Institute means DNA sequencing for neo-nates who are critically ill, and will no longer need to be done overseas, making the process less costly and quicker. Liggins Institute Director Justin O’Sullivan says the cutting edge genome sequencing technology will revolutionise the ability to diagnose rare diseases in infants. He says this will empower clinicians and whanau to deal with more than 300 known rare diseases where there are readily available treatments – an exciting development according to clinical neonatologist Auckland Hospital director for new born services Dr Mariam Buksh.