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Posted by on in Speeches

Monday 2nd August, 2010


Members of Parliament

Professor Richard Cotton
Head of the Genomic Disorders Research Centre at the Florey Neurosciences Institutes
and Mrs Elizabeth Cotton

Sir Gustav Nossal
Emeritus Professor in the Department of Pathology at The University of Melbourne

Professor Ingrid Winship
Professor of Adult Clinical Genetics at the Royal Melbourne Hospital

Mr David Abraham
Chair of the Cass Foundation
and Mrs Slavka Abraham

Distinguished guests, Ladies and gentlemen:

I would like to begin by acknowledging the traditional owners of the land on which we meet, the Kulin Nations, and pay my respects to their elders both past and present.

My wife Jan and I are delighted to welcome you to Government House this evening for a reception in support of the Human Variome Project.

In 2006 I was fortunate to be able to participate at a conference dinner to mark what was hoped would be the impetus to garner support for the Human Variome Project. Since that time, the support for this very important project has grown. Driven by the data emerging from the human genome project, scientists and clinicians have struggled to analyze and utilize the vast data that continues to accumulate at an exponential rate as the scientific community explores the variations that are found in sequences arising from a large number of studies.

In part, the developments in sequencing technology have facilitated that data explosion as the speed of sequencing DNA has increased and the costs of sequencing have decreased. Fortunately the power of computers has also grown in parallel otherwise our efforts to record and analyze the data would have come to a shuddering halt.

As a clinician scientist with an interest in identifying genetic causes of male infertility, I can briefly summarise some of the issues that would be addressed by the Human Variome Project. Estimates suggest that there may be between 3000 and 10,000 genes that have to function correctly to enable fertile, normal sperm, insufficient numbers, to be made by the testis. To analyze potential genetic causes, we make use of studies in genetically modified mice to find target genes since, if a genetic cause of infertility exists in a family, the large pedigrees required for human genetic approaches are rare as  infertility prevents that from happening.

Once mouse studies have identified a target gene, one then has to analyze the target gene in the genome of patients and compare those results to the sequence analysis of that gene in a sufficiently large number of normal fertile men with normal sperm profiles. The data in normal men must be reported before one can be sure that the sequence change in a patient can be linked to the sperm defect and is a mutation and is not just a variation in the normal genetic code called a polymorphism. It is critical that accurate medical records are kept of all patients in these studies to ensure that abnormalities other than infertility are not missed.

Of course this requires a system of reporting data of sequences and medical evaluations that is agreed to across the globe, a critical element in the Human Variome Project.

As its name indicates, variations in the genetic code cannot always be linked to disease, but may have other functions which will only be elucidated by this important project.

I am delighted that this project had its genesis and continued leadership in Melbourne as it further enhances the reputation of this State as a Global Centre of excellence in research and learning.  The Human Variome Project’s international standing will bring additional prestige from the global scientific and medical world to Victoria.  I look forward to following the progress of this project in tandem with the Human Genome Project.

I commend Dick Cotton and all involved in this task. We will all be beneficiaries in the long term. It is now my pleasure to invite Professor Cotton, the Head of the Genomic Disorders Research Centre, to address you.

Thank you.


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