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.
Organising the world’s genome information and make it universally accessible and useful to authorised users.
- Clinical Translation and Education:
Studying methods and strategies to promote the uptake of clinical interventions and technologies into routine practice -- including educational programs and resources -- with the aim of improving population health.
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.
KCCG researchers are part of multiple national and international research collaborations:
- The Sydney Genomics Collaborative
- Australian Genomics Health Alliance
- Global Alliance For Genomics and Health
|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.
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.
|Prof Andreas Zankl||Dr Elizabeth (Emma) Palmer||Dr Paul Lacaze||
|A/Prof Marcel Dinger||Prof Carolyn Sue||Dr Ryan Davis||Peter Priestley|