Clinical genomics research programs

Advancing genomic information from basic research through to clinical implementation.

Research programs

The Kinghorn Centre for Clinical Genomics (KCCG) teams work closely together to tackle major challenges that will advance the translation of genomic information to improve health.

Our research scope is divided into key programs:

  • Translational Genome Informatics:
    Expanding the clinical utility of whole-genome sequencing by developing algorithms to annotate pathogenic loci in noncoding regions of the genome, applied to a range of rare monogenic disorders of substantial unmet need.
  • Genomic Technologies:
    Ensuring that the Garvan Institute is at the cutting edge of the rapidly evolving genomics technology landscape by evaluating new sequencing platforms, developing new methodologies, and translating these applications into clinical and commercial settings.
  • Informatics:
    Organising the world’s genome information and make it universally accessible and useful to authorised users.
  • Clinical Translation:
    Studying methods and strategies to promote the uptake of clinical interventions and technologies into routine practice, with the aim of improving population health.

  • Education and Engagement:
    Developing and delivering targeted educational programs and resources for health professionals and diverse communities on the complex and fast-moving field of genomics.

We are already working on projects that integrate the skills and knowledge of team members across all programs to ensure that we are not siloed and make the most of our diverse expertise. 

Collaborative programs

KCCG researchers are part of multiple national and international research collaborations:

KCCG leadership

Sarah Kummerfeld Mary-Anne Young
A/Prof Sarah Kummerfeld Mary-Anne Young

A/Prof Sarah Kummerfeld and Mary-Anne Young are the Scientific and Clinical Heads of the KCCG, respectively. They provide strategic direction and oversee the centre's current and future activities.


Visiting scientists

The impact of clinical genomics is becoming widespread and its importance to diverse disciplines is becoming increasingly recognised. KCCG engages closely with scientists, clinicians and ethicists through visiting appointments. These individuals bring additional expertise to KCCG and provide a mechanism for reciprocal engagement into the broader genomics community.

Andreas Dr Jacqueline Savard Julia Yin
Prof Andreas Zankl Dr Jacqueline Savard Dr Paul Lacaze

Julia Yin

Elizabeth Palmer Garry Chadbond Garry Chadbond Garry Chadbond
Dr Elizabeth (Emma) Palmer  Prof Carolyn Sue Dr Ryan Davis  Peter Priestley 
Garry Chadbond      
A/Prof Marcel Dinger