"Post Doctorate Research Associate"

About the Role

We are seeking a highly motivated Post Doctorate Research Associate to contribute to a national research initiative focused on improving the diagnosis of syndromic intellectual disability through the integration of advanced technologies, artificial intelligence (AI), and genomic data. The FaceMatch project (facematch.org.au) is a Genomic Mission MRFF funded study. This role offers the opportunity to work at the intersection of genomics, data science, and clinical research, with the potential to directly improve diagnostic outcomes and early intervention for children and families.

Core responsibilities

• Coordinate the design, implementation, and evaluation of AI-enabled facial image analysis within a large-scale longitudinal child health study, supporting the development of a screening model to triage children with features suggestive of a genetic syndrome for early developmental assessment and genetic testing.
• Manage the development of a national phenotyping and genomic data resource, integrating facial features with genomic and diagnostic information from individuals with intellectual disability, both diagnosed and undiagnosed.
• Lead the design, implementation, and evaluation of AI-enhanced facial image analysis to support variant interpretation and novel gene discovery in children with syndromic intellectual disability who remain undiagnosed following exome sequencing.
• Foster national collaboration through secure and ethical data-sharing practices with clinicians, researchers, and health consumer communities.
• Contribute to knowledge translation and dissemination through publications, presentations, and engagement with consumer groups.

To be successful in this role, you will have:

• Expertise: Completed a doctoral qualification in computer vision, machine learning, digital health or a related area with strong programming skills.
• High-Quality Research: Demonstrated record of publication or non-traditional research output in high-quality outlets, including evidence of international and national research collaborations and/or partnerships in the areas of computer vision, machine learning, and health data analytics.
• National Recognition: Demonstrated recent ability to achieve national recognition in their discipline and to take a chief investigator role (often in conjunction with more experienced researchers) in applications for external research funds.
• Supervision: Skills in active supervision of honours, master's and/or Higher Degree by Research postgraduate research projects.
• Engagement: Demonstrated ability to perform effectively in allocated internal roles, contribute to academic service responsibilities, and support the work and outcomes of internal committees. Proven capacity to build external collaborations and to work both independently and collaboratively as part of a team.

For the full list of essential and desirable selection criteria, please review the Position Description.

About FaceMatch

Intellectual disability is one of the greatest unmet challenges in healthcare, affecting 1 in 200 children. While most moderate to severe cases are caused by single-gene variants, more than half of affected individuals remain undiagnosed despite advances in genetic testing. A timely molecular diagnosis is critical—not only to guide management, reduce unnecessary investigations, and enable access to clinical trials, but also to give families clarity, reduce isolation, and support reproductive decision-making.

Facial features often hold important clues to the underlying genetic cause of intellectual disability. The FaceMatch platform is a world-first, award-winning initiative, co-designed with clinicians, researchers, and families, to improve diagnostic accuracy and discover new genes. Unlike other tools, FaceMatch allows parents to contribute images across the age spectrum, making it uniquely suited to clinical practice and large-scale research.

Using AI-enhanced facial analysis, this project aims to:

• Develop an early screening model to identify children at risk of developmental delay and enable timely intervention.
• Enhance interpretation of uncertain genetic variants and accelerate novel gene discovery.
• Build a national resource that fosters collaboration between clinicians, researchers, and families.

This project will directly advance precision medicine for children with syndromic intellectual disability, with profound benefits for families and the healthcare system.

How to Apply

Your application must include:

• Your ORCID ID.
• A URL link to your University Academic Profile (or equivalent).
• A Cover Letter and Statement (uploaded as a single PDF):
  • Cover Letter (max. 1 page) outlining your interest in the role and providing details of 3 referees.
  • Statement (max. 4 pages) addressing the Essential and Desirable Criteria, as listed in the position description.
• Your CV (max. 5 pages) tailored to your discipline