Melbourne Genomics Health Alliance Congenital Deafness Flagship
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Professor David Amor
Project Details
We are leading the Congenital Deafness Flagship of the Melbourne Genomics Health Alliance. Congenital deafness is hearing loss present at birth. More than 50% of congenital deafness is thought to be genetic. Earlier accurate diagnosis for these children can better guide medical management, particularly for forms of deafness that can also cause other health problems later in childhood. Newborns from across Victoria (born after 1 January 2016) diagnosed with permanent hearing impairment in both ears of moderate or greater severity will be offered genomic sequencing in addition to their usual care. This is the first study internationally to combine genomic information with clinical, educational and health economic outcomes – from diagnosis in infancy through to primary school (through the VicCHILD databank).
Collaborators
We collaborate with a range of different groups including those from the Royal Children's Hospital Melbourne, Murdoch Childrens Research Institute, University of Melbourne. Our principle local collaborators are A/Prof Paul Lockhart, Professor Martin Delatycki and Dr Rick Leventer (Accelerated Gene Identification Program), A/Prof Melanie Bahlo (bioinformatics lead for the AGIP Program), Prof Jane Halliday (IVF studies and epidemiology), Dr David Godler (epigenetics and Fragile X), Prof Katrina Williams (Autism research), Prof Dinah Reddihough (cerebral palsy research), A/Prof Angela Morgan (Genetics of speech and language disorders).
Funding
We are funded through NHMRC and various philanthropic organisations.