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Technology Seminar (24 Aug 2007)

Technology Seminar

Update on the Human Variome Project




Professor Richard G. H. Cotton
Genomic Disorders Research Centre & Dept of Medicine,
The University of Melbourne for The Human Variome Project Consortium


on Friday, 24 August 2007 at 2:30p.m.

Room A2-08, the Telemedicine Centre
2/F, LKS Faculty of Medicine
21 Sassoon Road, Pokfulam, Hong Kong

The lack of systematic collection of mutations led to a meeting in Montreal in 1994 of some of the world’s leading geneticists, which concluded that as experts in genes are the best curators, the collection of mutations should be achieved via a federation of Locus Specific DataBase (LSDB) curators. This would lead to a standard of curation not possible in central databases (OMIM/HGMD). This led to the formation of the HUGO-Mutation Database Initiative (HUGO -MDI) (Cotton, R.G. Progress of the HUGO mutation database initiative: a brief introduction to the human mutation MDI special issue. Hum Mutat 15, 4-6 (2000)) and then to the Human Genome Variation Society (HGVS) (Horaitis, O. & Cotton, R.G. The challenge of documenting mutation across the genome: the human genome variation society approach. Hum Mutat 23, 447-52 (2004), www.hgvs.org).
Delegates of the highest possible level from various organizations related to genetic health and funding agencies agreed to launch the Human Variome Project (HVP) at a meeting in Melbourne June 20-23, 2006 (Ring, H.Z., Kwok, P.Y. & Cotton, R.G. Human Variome Project: an international collaboration to catalogue human genetic variation. Pharmacogenomics 7, 969-72 (2006), www.humanvariomeproject.org). In simple terms, the project aims to systematically collect human gene variation with associated phenotype information and make it available to those who need it. This will involve global collaboration with a number of major interacting projects developed, funded and carried out by working groups and others. The scale of the project requires considerable collaborators, coordination and funding.
The delegates generated 96 recommendations necessary, but not necessarily sufficient, to carry out the HVP and these have recently been published copyright free in Nature Genetics (Cotton, R.G. et al. Recommendations of the 2006 Human Variome Project meeting. Nat Genet 39, 433-6 (2007)) along with an Editorial in the same issue. Funding bodies have been approached to establish the coordinating office and develop projects related to the recommendations.
Currently there any many plans in suspended animation and only moving slowly due to limited funding. We are currently in a phase of attracting funding. (www.humanvariomeproject.org).


Richard Cotton AM BAgSc., Ph.D, D.Sc. (Melbourne) initiated the Mutation Research Centre, now renamed the Genomic Disorders Research Centre, in January, 1996 (www.genomic.unimelb.edu.au). He is interested in the biochemical genetics of human disease and has recently focused on mutation. He is particularly interested in improving mutation detection technologies to make them cheaper and simpler, so that they can be more widely applied, and holds several patents in the area. He has written two books entitled "Mutation Detection", initiated the journal entitled "Human Mutation", and in 1991 initiated bi-yearly international workshops on Mutation Detection. He has also started a worldwide initiative (The HUGO Mutation Detection Database Initiative, recently formed into the Human Genome Variation Society (HGVS) website: www.hgvs.org.) to capture and distribute lists of mutations. In June 2006, he convened a Meeting, co-sponsored by WHO, which initiated the Human Variome Project (www.humanvariomeproject.org). He can be contacted at (Telephone) +61 3 9288 2980 and Fax +61 3 9288 2989 and Email This e-mail address is being protected from spambots. You need JavaScript enabled to view it .


For enquiries, please call 2819-9848 or write to This e-mail address is being protected from spambots. You need JavaScript enabled to view it