Graduate Research Degree Awarded - Lilian Downie

Congratulations to Lilian Downie - Graduate Research Degree Awarded 9 June 2022.

Degree: PhD
Supervisors: David Amor, Jane Halliday and Sharon Lewis
Advisory Committee: Sharon Goldfeld, Valerie Sung

Thesis Title: Exome sequencing in infants with congenital deafness, a model for genomic newborn screening

Thesis Summary: Lil used genomic testing to identify the genetic causes of childhood deafness. She demonstrated that this is cost-effective for health systems and has benefits for families. This informed an application for federal funding. She also identified key areas that need to be addressed to establish a genomic newborn screening test.

Date awarded: 9 June 2022