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Research outline - Human Genome Research Program

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Research program

Genetic Metabolic Disorders Research Unit

There are three streams of research activity:

1. Rett syndrome

This is the second most cause of severe intellectual disability in females. Using cell culture based techniques and animal models we are studying the biology of this disorder with a key aim being to develop specific therapies for this neurodevelopmental disorder.

2. Mitochondrial respiratory chain disorders

These disorders of ATP production can affect most organs of the body with potentially devastating effects. We are developing novel methods to assist in their diagnosis, and we are using cutting edge molecular technologies to discover new disease-causing genes.

3. Phenylketonuria

If untreated, this disorder of phenylalanine metabolism will lead to severe intellectual disability in most cases. Our current research is examining phenotype-genotype correlations, and exploring the development of a novel therapy that could less the need for the difficult and unpalatable diet that PKU sufferers must otherwise endure.

Eye and Developmental Genetics Research Group

  • Chromosomal translocation and linkage studies for novel disease gene identification in eye and other developmental disorders.
  • Functional analyses of Wnt signalling molecules in eye development.
  • Investigation of corneal and retinal stem cell function.

NSW Biochemical Genetics Service Research Group

  • Repair of urea cycle defects in mice by rAAV-mediated gene transfer: towrads gene therapy for genetic liver disease (Collaboration with Gene Therapy Unit)
  • Effects of repeated Nitrous Oxide exposure on cobalamin metabolism in children. (Collaboration with Department of Anaesthesia).

NSW Newborn Screening Programme Research Group

  • Fragile-X Syndrome – Newborn Screening (collaborative study with GOLD Service)
  • Newborn screening for Homocystinuria (overseas collaboration)
  • DNA mutational analyses for dried blood spot newborn screening (MPhil commenced 2009)

Skeletal and Lysosomal Disorders Research Group

  • Normal ranges of Bone Density in Infants
  • Natural History of Genetic Skeletal Disorders in Children
  • Clinical Therapeutics of Bisphosphonates in Osteopenic Bone Disorders
  • Pathogenesis of the skeletal complications of Lysosomal Storage Disorders and Therapeutic strategies
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Research support (2008/09)

Genetic Metabolic Disorders Research Unit

Functional significance of MeCP2 target genes in the pathogenesis of Rett Syndrome
NHMRC Project Grant (over 3 years)

Development of novel treatment strategies for phenylketonuria
Australian Rotary Health Research Fund (over 2 years)

Unmasking mitochondrial respiratory chain (RC) disorders by forced myogenesis of cultured cells
March of Dimes Birth Defects Foundation (over 3 years)

Characterisation of novel CDKL5 targets: implications for Rett Syndrome and related neurodevelopmental disorders
NHMRC Project Grant (over 3 years)

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Eye and Developmental Genetics Research Group

Ophthalmic Research Institute of Australia

Rebecca Cooper Medical Research Foundation

NSW Biochemical Genetics Service Research Group

Gene therapy unit
NH&MRC grant #423400

NSW Newborn Screening Programme Research Group

Fragile-X: GOLD Service funding for staffing (0.67FTE) and reagents

Skeletal and Lysosomal Disorders Research Group

A one year randomized, double-blind, placebo-controlled, parallel group study of orally administered daily risedronate in children with Osteogenesis Imperfecta, followed by two years of open label risedronate.
Sillence D (PI), Ault J, Munns C, Briody J

Spondylocostal dysostosis and Related Disorders
Sillence D (AI), Collins F, Smith J

Understanding Osteogenesis Imperfecta: novel diagnostic and research perspectives
Sillence D (PI), Ault J, Munns C, Briody J

Clinical Genetics Department

MW - Clinical Genetics : Coinvestigator in several projects:

Genotype-Phenotype Correlation in patients with Tuberous Sclerosis Complex.
Investigators: Chopra M, Mowat D, Lawson J, Wilson M, Buckley M, Chopra M
Funded 0.5 FTE by Sydney Children's Hospital Foundation Fellow's Award for Research (over 2 years)

Cognition and Autism in Children with Tuberous Sclerosis Complex.
Investigators Lawson J, Wilson M, Smith R, Williams K, Chopra M, Bayl V
Supported by Grant from Sydney Children's Hospital Foundation (over 2 years)

Development of Huntington Disease Predictive test Guidelines (For Intermediate Allele Results): An interview study.
Wilson M, Richards F (in collaboration with Dr. Michael Hayden and graduate student, Ms. Alicia Semaka, University of British Columbia, Canada).
Approval Number: HREC2008/3/4.16(2756) AU RED 08/WMEAD/55 (over 2 years)

Intergenerational repeat size changes of CAG repeat sizes in the HD gene.
Wilson M, Richards F (multicentre study in collaboration with Dr. Michael Hayden, Alicia Semaka, Simon Warby, of UBC).
HREC 09WMEAD/87;SSA REF NUMBER 08/CHW/91 (over 2 years)

PTC-124 DMD trial.
K Jones Principal investigator
(Over 2 years)

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