Written by Dr. Peter Szatmari

CAN-A-GEN (the Canadian Autism Genetics team; that’s us!) has joined with other groups to work together to find the genes that cause autism. The “Calloway” collaboration refers to the plans for collaboration of the six major groups in the world studying the genetics of autism. For the last three years, the National Alliance of Autism Research (NAAR) has supported an annual meeting in Calloway, Georgia (the famous golf resort) where the different groups can share their results, identify and solve common problems, and make plans for the future. At these meetings, we all agreed that finding autism genes was proving more difficult than anticipated. It seems that we can identify chromosomes that probably contain autism genes but trying to identify the actual genes within those regions was proving to be very difficult. One likely reason for this difficulty is that there are different subgroups of children with autism and different genes are associated with these subgroups. But nobody is quite sure how to define these more homogeneous subgroups. Moreover, once a group is defined, the number of families with these characteristics may become too small to be able to find the genes that cause the disorder.

One solution is for the different research teams to combine their samples. We have all used the same diagnostic instruments to characterize the children with autism but some teams have obtained other information as well. With a much larger sample size, we can define subgroups of children with autism and still have enough families to be able to find autism genes. The teams that have come together include; from the US, (by university with the name of the main researcher in brackets), Tufts (Dr Susan Folstein); Duke ( Dr Perikak-Vance), Stanford (Dr Hallmayer), North Carolina (Dr Joe Piven), and Mt Sinai in New York (Dr Joe Buxbaum). We are the only group from Canada and there is one group from France (lead by Dr Betancour). Together we represent most of the groups around the world studying the genetics of autism. The total number of families with at least two children with autism is around 1000, which hopefully will be enough to solve this puzzle!

With the support of NAAR, the 7 groups submitted a proposal for funding to the US government (the National Institutes of Health). We needed funds to put all our clinical and genetic data into one big data base, an expensive proposition. The idea is to put all the data into one big computer and then to analyse it according to very strict rules that we have all agreed on. It is important to know that all data is still completely confidential, no identifying information is provided to the collaboration (i.e. the names of families, where they live, contact information etc). All that information is kept at McMaster under 24 hour lock and key with extra security. Once all the data has been combined we can begin to analyse the whole group and then select subgroups of families (for example, where both affected children are girls) for particular analyses.