research

cyto-molecular diagnostics research

summary

Our research group's focus is on translational research with application in diagnostic laboratory genetics. This has been a successful approach to improving the services provided by VCGS Pathology.

Our group uses the patient resources of the VCGS Pathology Cytogenetics and Molecular Cytogenetics laboratories to improve testing methods and introduce new technologies for novel tests. VCGS Pathology is the largest genetics testing laboratory in Australia and as such, is able to identify opportunities both for the CytoMolecular Diagnostic Research group and for other groups within Murdoch Childrens Research Institute.

group leader(s)

Doctor Howard Slater
 Group Leader
Cyto-Molecular Diagnostics Research
Murdoch Children's Research Institute
Royal Children's Hospital
Parkville, Victoria 3052

T   +61 3 8341 6262
F   +61 3 8341 6366
E  howard.slater@ghsv.org.au

group leader biography

current research projects

Project 1: Copy number variation and disease

This project looks at the discovery and assessment of the clinical significance of copy number variation detected in patients with a wide range of disorders, including mental retardation, epilepsy, autism, developmental delay and dysmorphism.

Project 2: The clinical significance of FMR1 small alleles

Our research in this area investigates the apparent association of small FMR1 alleles in common neurological conditions.

Project 3: Chromosome 5 deletions and myoclonic epilepsy

This project focuses on the identification of new genes responsible for epilepsy through patients with chromosome abnormalities.

Project 4: Improving prenatal diagnosis of chromosome abnormalities

This research looks at the assessment of new technologies for non-invasive prenatal diagnosis and their role, with respect to existing maternal serum screening services.

Project 5: Developing an assay to determine inherited risks in colorectal cancer for population screening

A new assay to distinguish between inherited and sporadic colorectal cancer has been designed and piloted. Large cohorts of normal and positive control samples are being tested to allow further refinement of the test. In addition, further research into the involvement of a new gene in inherited colorectal cancer has commenced.

team members

  • Sarah Annesley - Visiting Academic
  • Jacqueline D'Souza - Honours Student (UoM Paeds)
  • Devika Ganesamoorthy - Research Assistant
  • David Godler - Postdoctoral Fellow
  • Yoshimi Inaba - Research Officer
  • Ashley Marsh - Honours Student (UoM Paeds)
  • Justine Marum - PhD student (UoM Paeds)
  • Abdalla Rfieda - Master of Lab Med (RMIT MedSci)
  • Elva Shi - Research Assistant

publications

  • Bruno DL., Stark Z., Amor DJ., Burgess T., Butler K., Corrie S., Francis D., Ganesamoorthy D., Hills L., James PA., O'Rielly D., Oertel R., Savarirayan R., Prabhakara K., Salce N., Slater HR. Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high-resolution SNP microarrays. HUMAN MUTATION 32 (12) : 1500 - 1506(2011) PubMed
  • Bruno DL., White SM., Ganesamoorthy D., Burgess T., Butler K., Corrie S., Francis D., Hills L., Prabhakara K., Ngo C., Norris F., Oertel R., Pertile MD., Stark Z., Amor DJ., Slater HR. Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping. JOURNAL OF MEDICAL GENETICS 48 (12) : 831 - 839(2011) PubMed
  • Godler DE., Slater HR., Bui QM., Ono M., Gehling F., Francis D., Amor DJ., Hopper JL., Hennerich D., Hagerman R., Loesch DZ. FMR1 Intron 1 Methylation Predicts FMRP Expression in Blood of Female Carriers of Expanded FMR1 Alleles. Journal of Molecular Diagnostics 13 (5) : 528 - 536(2011) PubMed
  • Hawkins M., Boyle J., Wright KE., Elles R., Ramsden SC., O'Grady A., Sweeney M., Barton DE., Burgess T., Moore M., Burns C., Stacey G., Gray E., Metcalfe P., Hawkins JR. Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome. EUROPEAN JOURNAL OF HUMAN GENETICS 19 (1) : 10 - 17(2011) PubMed
  • Loesch DZ., Godler DE., Evans A., Bui QM., Gehling F., Kotschet KE., Trost N., Storey E., Stimpson P., Kinsella G., Francis D., Thorburn DR., Venn A., Slater HR., Horne M. Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism. GENETICS IN MEDICINE 13 (5) : 392 - 399(2011) PubMed
  • Manji SS., Miller KA., Williams LH., Andreasen L., Siboe M., Rose E., Bahlo M., Kuiper M., Dahl HH. An ENU-Induced Mutation of Cdh23 Causes Congenital Hearing Loss, but No Vestibular Dysfunction, in Mice. American Journal of Pathology 179 (2) : 903 - 914(2011) PubMed
  • Manji SSM., Williams LH., Miller KA., Ooms LM., Bahlo M., Mitchell CA., Dahl HHM. A Mutation in Synaptojanin 2 Causes Progressive Hearing Loss in the ENU-Mutagenised Mouse Strain Mozart. PLOS ONE 6 (3) (2011) PubMed
  • Tan TY., Collins A., James PA., McGillivray G., Stark Z., Gordon CT., Leventer RJ., Pope K., Forbes R., Crolla JA., Ganesamoorthy D., Burgess T., Bruno DL., Slater HR., Farlie PG., Amor DJ. Phenotypic Variability of Distal 22q11.2 Copy Number Abnormalities. AMERICAN JOURNAL OF MEDICAL GENETICS PART A (7) : 1623 - 1633(2011) PubMed