A study funded by the Foundation in 2014 and headed by A/Prof Luregn Schlapbach from Lady Cilento Children’s Hospital in Brisbane has used genetic research to explore the cause of lethal infection in previously healthy children.
Sepsis (severe infection) remains one of the leading causes of infant and childhood mortality worldwide. Approximately a third of lethal infections occur in previously apparently healthy children. Fatal bacterial sepsis is an extremely rare disease in previously healthy children. To date the majority of such cases were discharged from ICU without being investigated from a genetic or immunologic point of view. As a result, families were left with no explanation as to what had happened. Concerns about risks for recurrence persisted in many (evidenced by personal communication of participating parents).
Thanks to the enormous improvements in genetic research in the past years, it is now possible to analyse all genes of a patient within a short time. This genomic approach allows doctors to screen a patient’s entire DNA for mutations that are responsible for diseases. In contrast to previous studies, this new approach allows doctors to discover previously unknown genetic mutations that underlie rare diseases.
Read about this exciting Project Outcome.