Professor David Amor - Murdoch Children’s Research Institute

Professor David Amor - Murdoch Children’s Research Institute

Davis Auditorium
Start Time: 
Wed, 13/02/2019 - 1:00pm
End Time: 
Wed, 13/02/2019 - 2:00pm

Whole Exome Sequencing (WES) in infants with congenital hearing loss as a model for genomic newborn screening

​Clinical Translation seminar hosted by Associate Professor John Wentworth

Congenital deafness affects about 1 in 1000 children born in Victoria.  Through 2016 and 2017, the Melbourne Genomics Health Alliance, through its congenital deafness flagship, offered exome sequencing to all families in Victoria who had an infant with moderate or worse bilateral hearing loss.  The two aims of the project were to define the genetic aetiology of congenital hearing loss in a population-based cohort, and to offer parents the option of having extended genomic analysis in their infant, as a model for expanded newborn genomic screening.  This talk will present the findings of congenital deafness flagship, including the spectrum of genetic abnormalities detected and details about parents who elected to receive additional genomic findings about their child.

David trained in paediatrics and genetics at the Royal Children’s Hospital before completing a PhD in Chromosome Biology at the Murdoch Children’s Research Institute.  In 2016 he was appointed to the Galli Chair in Developmental Medicine at the University of Melbourne, prior to which he was Director of Victorian Clinical Genetics Services. His current research focuses on the genetics of intellectual disability, the translation of new genetic technologies into clinical practice and the identification of genes for rare syndromes.