First listed on: 22 October 2019


Rare Diseases Functional Genomics Laboratory

  •  Make an important contribution to the health of children through translational medical research and genetic diagnosis
  • Located in Westmead, one of Sydney’s and Australia’s major biomedical research hubs  

The Rare Diseases Functional Genomics program (RDFG) is a joint venture of the Sydney Children’s Hospital Network (SCHN) and the Children’s Medical Research Institute (CMRI), established in 2017 as a flagship initiative of the Paediatrio research network ( The vision of the RDFG is to empower the diagnosis and treatment of genetic disorders, including the rare and difficult to diagnose. In particular, the RDFG aims to discover how genetic variants contribute to disease, with the ultimate goal of early curative treatment or disease prevention.

Applications are invited for the position of Research Officer/Senior Research Assistant in the Rare Diseases Functional Genomics Laboratory. This laboratory carries out functional analyses to help investigators from the SCHN and CMRI reach a definitive molecular diagnosis for patients with rare genetic diseases. The successful applicant will be involved in a variety of molecular and cell biology assays, including but not limited to DNA/RNA purification, qPCR, western blotting, immunocytochemistry and immunohistochemistry. The successful candidate must hold a Bachelor of Science degree or equivalent, a PhD or at least 6 years of hands-on research experience, and the following attributes:


  • Cell culture experience
  • Molecular biology experience
  • Human genetics experience
  • Good oral and written communication skills
  • Excellent record keeping skills


  • Microscopy experience
  • Basic bioinformatics
  • Database skills
  • Expertise in specialised functional assay(s) e.g. electrophysiology

This appointment is initially for a fixed term of 12 months and continuing tenure is subject to satisfactory performance, the availability of funding and the requirements of research projects within the laboratory.

Selected candidates will be provided with a competitive remuneration package in accordance with qualifications and experience. Additional benefits include the provision of a Public Benevolent Institution salary packaging scheme and participation in an employer-contributed superannuation fund.

Applications should include a cover letter (citing PV1935), curriculum vitae and contact details (phone/email) of three professional referees and be forwarded to

Closing date for applications is Friday 22nd November 2019.

Please direct enquiries regarding the position to Dr. Lisa Riley, Manager, Rare Diseases Functional Genomics Laboratory:

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