Human Genome Research Project

Academic Department of Medical Genetics

• Head of Unit
• Research Aspect One - Genetics and Treatment of Osteopenic and Other Metabolic Bone Disorders of Childhood
• Research Aspect Two - Characterization of the Molecular Genetics and Pathogenesis of specific skeletal birth defects in mouse and man
• Research Aspect Three - Consanguinity and Paediatric Morbidity / Population Genetics of Consanguinity in Middle Eastern Population

See also: Academic Department of Medical Genetics (site under construction) in the hospital's Directory of Services

Head of Unit

Research Aspect One - Genetics and Treatment of Osteopenic and Other Metabolic Bone Disorders of Childhood

Background Information

While our initial studies commenced with the brittle bone disorders collectively known as Osteogenesis Imperfecta we have extended our research techniques to a wider range of skeletal disorders. These collaborative studies have defined / or are being used to define:

1. the normal ranges of bone density and skeletal metabolites in children; present studies encompass bone metabolism in children 0 - 3 years.
2. the natural history of various skeletal disorders in children; the group is collaborating with overseas research groups in the delineation of OI type III, V, VI, VII and Bruck syndromes.
3. the specific requirements for treatment of these disorders with bisphosphonates. We are co- investigators in a number of international collaborative studies assessing the efficacy of bisphosphonates.

Research Aspect Two - Characterization of the Molecular Genetics and Pathogenesis of specific skeletal birth defects in mouse and man

Background Information

The osteochondrodysplasias are a heterogeneous group of heritable disorders of the skeleton.   We collaborate with the International Skeletal Dysplasia Register (Cedars-Sinai).   There are several groups of disorders where we have major collaborations.   These include: spondylocostal dysplasias where we have contributed to the delineation of 3 syndromes, Bruck syndromes where we have contributed to the delineation of Bruck type 2 and Camurati-Englemann disease where we are investigating new therapies.   The research group also have major collaborations with Australian investigators looking into the natural history of Achondroplasia.

Research Aspect Three - Consanguinity and Paediatric Morbidity / Population Genetics of Consanguinity in Middle Eastern Population

Background Information

The clinical audit of the Western Sydney Genetics service 1995-1997 revealed that in nearly 60% of our Middle Eastern and central Asian clientele the parents were consanguineous.  Autosomal recessive disorders were 1.7 times more frequent in offspring of consanguineous couple.  A detailed analysis of the patterns of disorders pointed to the possibility for us to develop the latest population screening technologies known as gene chip technologies so as to be able to offer couples accurate population specific testing in the future.

To achieve our goals we need to:

1. Use the new technique of Autozygosity gene mapping to characterize rare autosomal recessive disorders in the client populations.
2. Develop detailed phenotype / genotype correlations of rare disorders in these populations
3. Develop a confidential register of information about rare disorders in our population building on Dr Teebi’s classic work on this subject