research

public health genetics

summary

We undertake epidemiological research into the aetiology of birth defects and also to monitor and evaluate the use of genetic and related prenatal health services.

Current areas of study include: prenatal and predictive genetic diagnosis and genetic screening.

We investigate the prevalence and aetiology of congenital conditions and other adverse perinatal and child health outcomes.  Current areas of study include: vitamin D deficiency in pregnancy, alcohol use in pregnancy, assisted reproductive technologies.

Improve the health and wellbeing for infants, children and young adults with congenital conditions.  Current areas of study include: developmental disability data and Klinefelter's syndrome. 

Assess consumer use and understanding of genetic testing.  Current areas of study include: Cystic fibrosis, Thalassaemia, prenatal screening & diagnosis and Fragile X.

group leader(s)

  A/Professor Jane HallidayJane Halliday
  Public Health Genetics
  Murdoch Childrens Research Institute

  T +61 3 83416260
  E  janehalliday.h@mcri.edu.au

  group leader biography

current research projects

Project 1:  Alcohol Use in Pregnancy: what questions should we be asking?

This project, conducted over four years, aims to compare possible effects of low to moderate alcohol consumption during pregnancy with not drinking any alcohol at all while pregnant. We are recruiting up to 2,000 participants who will complete four questionnaires and provide biological samples to gain new evidence on the complex effects of low to moderate alcohol consumption in pregnancy by utilising a specifically developed and tested set of questions on alcohol intake. Our analysis will include other key covariates to help explain a potential association between prenatal alcohol exposure and selected outcomes for the child.
Please visit www.mcri.edu.au/aquastudy for more information.

Project 2: Comparison of health and development of young adults born from assisted conception

A large number of children have been conceived with In-vitro fertilisation (IVF) and use of this technology is increasing. Worldwide, there has been little research into the longer term well-being of these young people as they progress into adulthood. The aim of this project is to confirm the health and development of young people aged 18 - 28years, who were conceived from IVF treatment in Victoria, as compared to other young people who were conceived without IVF.  This will provide further information for the community on the long term safety of IVF.

For information contact Cate Wilson. Email:cate.wilson@mcri.edu.au  Ph.(03) 8341 6291.

Project 3: Understanding the psychosocial impact of being diagnosed and living with Klinefelter Syndrome

Klinefelter Syndrome (KS) is a common genetic condition affecting approximately 1 in 450 males. Around 60% remain undiagnosed, even though they may benefit from treatment. This project aims to understand the psychosocial impact of being diagnosed and living with KS, using a questionnaire survey and interviews to determine how interventions accessed at different ages affect quality of life in adulthood.

The project commenced in 2007 and is currently being finalised. Outcomes will include genetic counselling guidelines, recommendations for screening and development of resources for those with KS and their families. For further information, please contact Amy: klinefeltersyndrome@gmail.com or (03) 83416279.

Project 4: Evaluation of Prenatal Screening and Diagnosis

Exploring what pregnant women want to know about their baby's chromosomes during pregnancy.
With the introduction of new technologies in prenatal diagnosis and the variety of molecular tests currently available, women could be making choices about the conditions for which they want prenatal testing. This study explores their perspectives on having prenatal diagnosis for a particular chromosome condition, based on a brief description of the clinical outcome. The four chromosome conditions, range from moderately severe to extremely mild, and include a condition with a high degree of uncertainty in outcome. The results of this project will help inform policy and future test development, as well as provide new insights that will assist with pre-test counselling.

Project 5: Health and development of school age children conceived using IVF and embryo biopsy for pre-implantation genetic diagnosis (PGD)

PGD is increasingly being used, in conjunction with IVF, to confirm the genetic health of embryos prior to implantation. This study aims to find out about the health and development of children, aged between 5 and 8 years old, who were born after PGD, compared to other children.  Mothers of eligible children are invited to participate in the study by completing a detailed questionnaire about their child's health, learning, development, behaviour, and well-being. This will provide information for the community on the longer term safety of PGD.

team members

  • Veronica Abrruzzo - Research Assistant
  • Turi Berg - Research Assistant
  • Janelle Blythe - RESEARCH ASSISTANT
  • Veronica Collins - HONORARY RESEARCH FELLOW
  • Helen Curd - Research Assistant
  • Anne Glynn - RESEARCH OFFICER
  • Emily Habgood - Honours Student (UoM Paeds)
  • Simone Hamilton - Research Assistant
  • Amy Herlihy - Research Assistant
  • Bec Heylen - Research Assistant
  • Sharon Lewis - Senior Research Officer
  • Kirsten Marks - RESEARCH ASSOCIATE
  • Clare Morrison - Research Assistant
  • Evelyne Muggli - Senior Research Officer
  • Cecile Muller - RESEARCH OFFICER
  • Sarah Ogilvy - RESEARCH ASSOCIATE
  • Amanda Springer - Research Assistant
  • Marleen Susman - PhD Student (UoM Paeds)
  • Cate Wilson - RESEARCH OFFICER
  • Sonia Young - RESEARCH AFFILIATE

publications

  • Bertalli NA., Allen KJ., McLaren CE., Turkovic L., Osborne NJ., Constantine CC., Delatycki MB., English DR., Giles GG., Hopper JL., Anderson GJ., Olynyk JK., Powell LW., Gurrin LC., HealthIron Study Investigators. A comparison of self-reported and record-linked blood donation history in an Australian cohort. Transfusion 51 (10) : 2189 - 2198(2011) PubMed
  • Evans-Galea MV., Carrodus N., Rowley SM., Corben LA., Tai G., Saffery R., Galati JC., Wong NC., Craig JM., Lynch DR., Regner S., Brocht AFD., Perlman SL., Bushara K., Gomez CM., Wilmot GR., Li L., Varley E., Delatycki MB., Sarsero JP. FXN methylation predicts expression and clinical outcome in friedreich ataxia. ANNALS OF NEUROLOGY (2011)
  • Folker JE., Murdoch BE., Rosen KM., Cahill LM., Delatycki MB., Corben LA., Vogel AP. Differentiating profiles of speech impairments in Friedreich's ataxia: a perceptual and instrumental approach. International Journal of Language and Communication Disorders (2011)
  • Herlihy AS., Gillam L. Thinking outside the square: considering gender in Klinefelter syndrome and 47, XXY. International Journal of Andrology 34 (2011) PubMed
  • Herlihy AS., Gillam L., Halliday JL., McLachlan RI. Postnatal screening for Klinefelter syndrome: is there a rationale?. ACTA PAEDIATRICA 100 (6) : 923 - 933(2011) PubMed
  • Herlihy AS., Halliday JL., Cock ML., McLachlan RI. The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison. MEDICAL JOURNAL OF AUSTRALIA 194 (1) : 24 - 28(2011) PubMed
  • Herlihy AS., Halliday JL., Gillam LH. Ethical Issues in Recruiting Prenatally Diagnosed Adults for Research: Klinefelter Syndrome as an Example. Public Health Genomics 15 (1) : 31 - 33(2011) PubMed
  • Herlihy AS., McLachlan RI., Gillam L., Cock ML., Collins V., Halliday JL. The psychosocial impact of Klinefelter syndrome and factors influencing quality of life. GENETICS IN MEDICINE 13 (7) : 632 - 642(2011) PubMed
  • Mastroiacovo P., Maraschini A., Leoncini E., Mosscy P., Bower C., Castilla EE., Feldkamp ML., Halliday J., Little J. Prevalence at Birth of Cleft Lip With or Without Cleft Palate: Data From the International Perinatal Database of Typical Oral Clefts (IPDTOC). CLEFT PALATE-CRANIOFACIAL JOURNAL 48 (1) : 66 - 81(2011) PubMed
  • Smith KR., Bromhead CJ., Hildebrand MS., Shearer AE., Lockhart PJ., Najmabadi H., Leventer RJ., McGillivray G., Amor DJ., Smith RJ., Bahlo M. Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes. Genome Biology (2011) PubMed
  • Wang Y., Gurrin LC., Wluka AE., Bertalli NA., Osborne NJ., Delatycki MB., Giles GG., English DR., Hopper JL., Simpson JA., Graves S., Allen KJ., Cicuttini FM. HFE C282Y Homozygosity Is Associated with an Increased Risk of Total Hip Replacement for Osteoarthritis. Seminars in Arthritis and rhematism (2011)
  • Wilson CL., Fisher JR., Hammarberg K., Amor DJ., Halliday JL. Looking downstream: a review of the literature on physical and psychosocial health outcomes in adolescents and young adults who were conceived by ART. HUMAN REPRODUCTION 26 (5) : 1209 - 1219(2011) PubMed