Understanding neonatal hyperbilirubinaemia in the era of genomics

Identified genetic components that contribute to the genesis of neonatal hyperbilirubinaemia with a focus on inborn errors of hepatic bilirubin conjugation are summarized and the potential use of microarray gene expression profiling technology is discussed to enhance understanding of the pathogenesis of hyperbilIRubinaemic neuronal cell injury.

Abstract

The genomics revolution offers novel approaches to scientific investigation. Application of genomics technologies including microarray gene chips will provide a more complete picture of biological phenomena and help define the genetic contribution to disease by monitoring changes in expression across thousands of genes in physiological and clinical contexts. We briefly summarize identified genetic components that contribute to the genesis of neonatal hyperbilirubinaemia with a focus on inborn errors of hepatic bilirubin conjugation and discuss the potential use of microarray gene expression profiling technology to enhance our understanding of the pathogenesis of hyperbilirubinaemic neuronal cell injury. Expanded study using the tools of genomics will shed insights into the genetics of newborn jaundice and the pathogenesis of hyperbilirubinaemic encephalopathy.