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Defining the genetic predisposition to biliary atresia

58 months
Approved budget:
Professor Stephen Robertson
Health issue:
Proposal type:
Lay summary
Biliary atresia is a lethal congenital disorder that disproportionately affects Maori and Pasifika children. It is the commonest indication for liver transplantation in children. We aim to understand the cause of this condition through the genetic study of a North Island iwi that has an exceptionally high incidence of the disorder. We will use genotyping and high throughput sequencing to find the predisposing genetic factor that underlies this observation. We will then extend our studies to other Maori and Pasifika children to see whether this same factor may underlie the predisposition these children have to develop this condition. Identifying and understanding this susceptibility factor will facilitate approaches to primary and secondary prevention of biliary atresia, including screening at-risk infants and consideration of other environmental factors in the causation of the disorder, such as infectious agents.