Medical Genetics Laboratory

Lab head: Ronald Trent
Location: C39 - Royal Prince Alfred Hospital

The two main areas of research conducted by the Medical Genetics Laboratory are:

  1. Genetic analysis of elite athletes to identify genes enhancing cardiovascular performance
    This work is undertaken in collaboration with the Australian Institute of Sport in Canberra, as well as the Neurogenetics Unit at the Children's Hospital Westmead headed by Professor Kathryn North. The aim of this work is to identify cardiovascular modifying genes from an elite athlete model and from this determine the role of these modifying genes in human cardiovascular disease.


  2. Molecular genetics studies in motor neuron disease
    The purpose of this work is to identify genetic factors that interact with environmental insults leading to the development of sporadic motor neuron disease. This work is undertaken in collaboration with the Motor Neuron Disease Research Group.


Lab members: R Trent (head), B Yu (senior)

Gene copy number in sporadic Amyotrophic Lateral Sclerosis

Primary supervisor: Bing Yu

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder where there is a progressive loss of motor neurons. It causes death in about 3 years. The familial form of this disease occurs in 10% of cases and is linked to the gene for superoxide dismutase 1. The remaining 90% of cases are sporadic (i.e. they occur only in one member of a family) and the cause of this form of the disease is unknown. Since these two forms of disease are clinically and pathologically indistinguishable, we are investigating genetic mechanisms that might underlie sporadic ALS. Changes in the copy number of chromosomes are involved in several neurological diseases. These changes may preferentially involve the central nervous system. In an attempt to see if copy number changes in the brain could lead to sporadic ALS we are comparing gene copy number across the genome in the brains of ALS patients and control subjects. For this we are using whole-genome scanning with Affymetrix 500K gene chips. Of interest, some regions have shown differences in copy number in ALS patients compared with controls and these regions may play a role in ALS pathogenesis.

In this project, the student will undertake the vital step of confirming these differences in the copy number using quantitative PCR. The work will be undertaken in the Department of Molecular and Clinical Genetics.

Discipline: Pathology