Collaborative work with the Department of Chemical Pathology at RPA Hospital is focussed on developing a genomics model of care for patients and families in familial hypercholesterolaemia. This is multidisciplinary and will include preventive and community-based approaches in management of this important and common disorder. Implementation research includes working with primary care to roll out preventive strategies for families with familial hypercholesterolaemia.

A developing program in pharmacogenomics includes work with the Collaborative Centre for Cardiometabolic Health Psychosis (ccCHiP) in treatment of mental health disorders. Clinical research introducing pharmacogenomics as a model of care in practice considers the challenge so far faced with how pharmacogenomics can assist in enhancing therapies while reducing adverse events and the potential for gene markers in the treatment of alcoholism.

In cancer precision medicine at RPA Hospital, the potential for ctDNA (tumour DNA in blood) will be progressed with oncologists at Chris O'Brien Lifehouse for improved diagnostic and surveillance options. Associate Professor Bing Yu is continuing research into the implication of somatic mutations on precision oncology with the focus on solid tumours.

In Concord’s Molecular Medicine Laboratory, the clinical utility of genomics in expanding the diagnostic potential for neurogenetic disorders is utilising sequencing technology to detect the causative genetic changes. 

Dr Anthony Cheong is progressing existing funded research projects in Nanopore (in collaboration with Garvan Institute of Medical Research) and newborn screening using whole genome sequencing (in collaboration with Children’s Hospital at Westmead). Dr Cheong’s team was successful in obtaining a discovery grant with Nabsys to investigate the use of electronic genome mapping as an alternative method in Facioscapulohumeral Muscular Dystrophy (FSHD) diagnostic testing and have applied for a research grant using long read sequencing in FSHD in collaboration with Dr Marcus Hinchcliffe at the Australian National University.

Dr Amali Mallawaarachchi’s research focuses on understanding the molecular basis of polycystic kidney disease and in the genetics of inherited kidney disease. During 2023, Dr Mallawaarachchi delivered a masterclass for the Transplant Society of Australia and New Zealand on the role of genotype to inform kidney transplantation and discussed the utility of genetic investigation in nephrology as invited speaker at the ANZSN Nephrology & Transplantation Update Course.