By David Mark
A team of international scientists have found 10 genes with high levels of mutations which they believe could lead to intellectual disabilities including autism.
Professor of Human Genetics at the University of Adelaide, Dr Jozef Gecz, said the landmark study was essentially looking for patterns and genetic mutations.
“This work really maps a map of a human genome, starting from about 29,000 children with these disabilities, and about 20,000 controls,” he said.
The team, including scientists from Australia, set out to find genetic mutations that lead to common intellectual disabilities, including autism and language problems.
“We look at the differences which are consistent, and of course, statistically, mathematically, significant,” Professor Gecz said.
“And then the group at the University of Washington in Seattle actually interrogates a selected number of genes, in this case about 26, for next level possible mutations, to see whether there were differences.”
The team found 10 genes with high levels of mutations, which they believe could lead to intellectual disabilities that present differently in each case.
“What it tells us is that these genes for autism, learning disability, and perhaps some of the psychiatric problems, or behavioural problems, are actually the same – they just may present in different individuals as an almost different disease,” Professor Gecz said.
The findings could lead to better screening for learning disorders, and hopefully one day, treatment.
“That’s what we’re hoping for, that’s really our aim in the long run,” he said.
“That’s very hard, we have to admit, but we have to be optimistic, we have to find what the causes are, we have to help these families at least plan to have healthy children.
“We know how important this is for everybody.”