Collection and Storage of Human Genome Variation
Sequence variation in the human genome has been collected in various ways for over 50 years. Initially this was collected in scientific papers and books. After this early phase, an intermediate phase aided by gene cloning allowed discovery and collection of variation causing single gene disorder (mutation) and variation which was harmless but used in various genetic studies (polymorphism). Mapping and sequencing of the human genome led to an enormous increase in the rate of discovery of all variation by various means. Today we have the situation where so much variation is being and has been discovered that documentation is not being systematically achieved, this is for several reasons. In the case of mutation there are major reasons for this. Firstly, scientific journals are loath to report the nth mutation in a particular gene which causes disease; secondly, there is no requirement from the scientific or medical community to report these mutations. Finally, diagnostic labs have neither the incentive nor the time to report mutations. This is all despite the value of this information to scientists studying particular genes and the diagnostic lab community and their clinicians and patients and others. In the case of polymorphisms, huge funds have been expended on describing these, commonly known as SNP’s, and consequently both public and private databases have been set up to collect these. The problem is not so much collection in this case but definition of authenticity and description of the use of these, for example in linkage studies. This presentation will describe efforts to and success in setting up systems to systematically collect this information.
Director, Genomic Disorders Research Centre, Level 2, 161 Barry Street, Carlton South, VIC 3053, Australia
In 1963 Richard Cotton graduated from the University of Melbourne with a BAgSci, after which he completed a PhD. He then went on to do some postdoctoral work in Canberra; the Royal Children’s Hospital Research Foundation, Melbourne, Scripps Clinic, USA and MRC laboratory of Molecular Biology, Cambridge. In Cambridge Richard conceived, planned and established the practical and theoretical foundations for the Monoclonal Antibody technique, which eventually won the Nobel Prize for the UK laboratory. Today Richard is Head of the Genomic Disorders Research Centre, which he established in 1996 to provide an International focus for the field of mutation and provide a non-directive research environment for the work. He is interested in the biochemical genetics of human disease and has recently focused on mutation, the event damaging our genetic material and causing inherited disease and cancer. In 1991 he initiated the scientific journal Human Mutation, which is currently in the top 13 of 130 genetics journals. In 1994 he initiated a movement to document all mutations in genes, the HUGO Mutation Database Initiative, which is a global initiative now developed with the Human Genome Variation Society (http://www.hgvs.org) with Human Mutation (http://www.wiley.com/humanmutation/) as its society journal. He also coordinates and chairs international mutation detection courses and workshops with HUGO (http://www.gene.ucl.ac.uk/hugo/), as well as national workshops in mutation detection. During his career, Richard has written two books on Mutation Detection and over 200 scientific papers. He is also Treasurer of the Human Genome Organisation (HUGO), which co-ordinates studies of the human genetic information.