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  • Rated above world standard Genetics, Excellence in Research Australia 2018
Faculties and schools_

Discipline of Genomic Medicine

Cutting-edge research in a diverse and ever-changing field
We study the impact of genetics on human health, applying genomics to investigate underlying causes of disease to develop effective treatments, and explore educational and ethical issues that arise as genomic technology improves.

About the discipline

The Discipline of Genomic Medicine is represented by teaching and research staff on campus and in each of the clinical schools and the research institutes of the University of Sydney.

Subdisciplines of genomic medicine include: clinical genetics; genetic counselling; molecular, biochemical and population genetics; cytogenetics; genetic epidemiology; genetic therapy; newborn screening; and genetic education. Genomic medicine comprises these many facets and includes the diagnosis, investigation, prevention and treatment of genetic disorders.

In keeping with the rapidly expanding knowledge base in genomics, our research and clinical practice are diverse and constantly changing. We contribute to molecular medicine; ocular genetics; neurogenetics; immunogenetics; craniofacial genetics; inborn errors of metabolism in children and adults; skeletal disorders; genetics in cancer; renal and cardiac genetic disorders; and single nucleotide association studies in the context of complex disease.

Study options

We introduce the basic and clinical sciences in the first two years of the MD program via a curriculum oriented to identifying, working with and solving problems. The program integrates four themes: basic and clinical sciences; patient and doctor; population medicine; and personal and professional development.

The principles of medical genetics and genomics, inborn errors of metabolism, newborn screening and genetic therapies are introduced as the first problem in block 1 (theme 1). We will revisit these principles frequently during the first two years of the curriculum. We introduce ethical issues arising from the diagnosis of genetic disorders and prenatal diagnosis in parallel personal and professional development sessions. 

Learn more about the Doctor of Medicine at the Sydney Medical School.

The University offers a range of research opportunities to help you pursue your passion. You can undertake a:

To learn more about research opportunities in the Faculty of Medicine and Health visit our postgraduate research page.

The Discipline of Genomic Medicine offers Genomics in Clinical Practice as a unit of study in the Master of Medicine program or as a short course through the Sydney Medical School.

Our research

With researchers located throughout the faculty and its clinical schools, the diversity and currency of clinical genomic research is reflected across our range of research areas.

Areas of research include:

  • genomics for genetic diseases
  • ocular genomic medicine
  • genetic therapies
  • genetic metabolic diseases
  • neurogenetics
  • genetic skeletal disorders
  • immunogenetics
  • cardiac genetics
  • renal genetics
  • haemotological disorder genetics
  • cancer genomic medicine
  • connective tissue disorders and Marfan syndrome
  • craniofacial genetics
  • newborn screening.

Our people

  • Dr Alan Ma, Doctor of Medicine (MD) genomics curriculum
  • Dr Michel Tchan, Master of Medicine and short course genomics
  • Professor Ian Alexander, Children’s Hospital at Westmead Clinical School
  • Associate Professor Bruce Bennetts, Children’s Hospital at Westmead Clinical School
  • Associate Professor Marina Kennerson, Central Clinical School
  • Associate Professor Judy Kirk, Westmead Clinical School
  • Professor Graham Mann, Westmead Clinical School
  • Professor Garth Nicholson, Central Clinical School 
  • Emeritus Professor David Sillence, Children’s Hospital at Westmead Clinical School
  • Professor Ronald Trent, Central Clinical School
  • Professor Andreas Zankl, Children’s Hospital at Westmead Clinical School

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