Understanding Human Variation E-mail

The Ella Latham Lecture Theatre, Royal Children’s Hospital, Flemington Road, Parkville

14th November, 2010

9.30 am – 4.00 pm

REGISTRATION

Background

The HGSA Education Committee: The Human Genetic Society of Australasia (HGSA) is the peak body for clinical geneticists, genetic counsellors, laboratory and research scientists, and other professionals engaged in human genetics. The Education Committee aims to keep abreast of trends in genetic education and training, nationally and internationally, and aims to advance education about human genetics to professionals and to the wider community. The focus has been the development of recommendations for core competencies in human genetics for new medical graduates and assembly of educational resources for those involved in curriculum development to facilitate their implementation.

The Australian Node of the Human Variome Project (HVP);www.humanvariomeproject.org) was initiated at a meeting in Melbourne 24thNovember, 2008 where the problems of collecting genetic information was addressed and a consortium was formed.  Subsequently funding was secured via the Federal \Government NeAT scheme to develop Software and Data support systems to collect and share genetic data to assist those clinicians and researcher working in the field.  This funding gave a dramatic boost to the work and many have been working over the past year to develop and integrate this new system.  There is currently a trial in laboratories underway and we are pleased to have this opportunity to share these outcomes with you.  The Human Variome Project will be extending this collection to further genes and are looking to collaborate with any hospital or laboratory within Australia to achieve the best outcomes for patients.  When established this system is intended to be transferred to other countries.

Purpose of the meeting

Since the completion of the sequencing of the human genome, genomics has become relevant not only to clinical genetics but also to public health genetics and health care. An explosion of genetic testing has revealed copy number variants of unknown clinical significance. The understanding, interpretation and application of this knowledge have challenged those working in human genetics.

This workshop aims to outline our current understanding of human variation and the means of managing new data from multiple sources by harnessing bioinformatics and international collaboration.

Draft – PROGRAM (30/4/10)

9:30 – 10:00 Registration and coffee
10.00 – 10:20 Welcome: Agnes Bankier and Richard Cotton
SESSION 1: Understanding Human Variation
10:20 – 10.50 Speaker I : Richard Cotton – Philosophy of the Human Variome Project International: harnessing databases and sharing knowledge
10.50 – 11.20 Speaker 2: Howard Slater -Understanding copy number variants in molecular cytogenetics (SNP microarray)
11.20-11.50 Speaker 3: Sue Forrest – Understanding unclassified variants in molecular diagnosis
11.50 – 12.20 Speaker 4: Paul James – Unclassified variants in cancer
12:20-12.45 Speaker 5: Andy Faucett – Explaining variants to clients
12.45 – 1.30

 

Lunch
SESSION 2: Recent developments
1:30 – 1.45 Speaker 1: Agnes Bankier – Developing genetic literacy for health professionals. Genetic education: national and international efforts
1.45 – 2.15 Speaker 2: Alan Lo -The Australian Node Project, The Australian Node database in practice – achievements to date, the importance of submitting to database etc
2.15 – 2.45 Speaker 3:  TBA – Education Committee of the Human Genome Project

 

Introduce the final sessions

  • HVP Australian Node system tutorial in breakout room allowing delegates to see and use portal.
  • HGSA educational resources
  • POSSUM
2:45- 3:45 SESSION 3: Tutorials and hands-on learning

 

includes Coffee Break
3.45-4.00 Summary
4.00 Meeting ends