Human Genome Research Project

Cytogenetics

• Head of Unit
• Summary of Research

See also: Clinical Genetics in the hospital's Directory of Services.

Head of Unit

Summary of Research

We have developed interests in several research areas. One area is developmental psychiatry where we are investigating the behaviour and emotional problems in young people with intellectual disabilities. This work has grown out of Dr Ellie Smith's long-standing interests in laboratory and clinical aspects of both Prader-Willi and Angelman syndromes. Dr Smith is also involved in a three year study, under the auspices of the Australian Paediatric Surveillance Unit, concerning the incidence of Prader-Willi syndrome within the Australian population.

Dr Art Daniel has undertaken investigations into the development of novel technologies, including chromosome microdissection and PRINS, to identify the origins of marker chromosomes found during prenatal diagnosis and the perinatal period. This work was done in collaboration with Dr Zhan He Wu. Further work by Dr Daniel has involved the genetic origins and related variation in phenotype of a series of constitutional and mosaic triploid (69 chromosome) placentae, embryos, fetuses, and infants. This work has addressed the early events in formation of these by microsatellite inheritance and DNA methylation studies.

We are also using research techniques to identify the genomic content in marker (unidentified) chromosomes. When clinically ascertained, these markers provide problems for genetic counselling, and the elucidation of their structure is necessary in determining their clinical significance.

A further project involves the development of interphase fast FISH as a diagnostic service for prenatal (obstetrician) proceduralists, in prenatal cases requiring a rapid diagnosis.