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Thursday, May 7, 2015

Autism Research: What Needs to Happen

LiveScience has an essay by Francesca Happé, president of the International Society for Autism Research (INSAR) and director of the MRC Social, Genetic and Developmental Psychiatry Centre at the Institute of Psychiatry, Psychology and Neuroscience at King’s College London.
Autism is a myth-magnet. You can barely look at a newspaper, magazine or newsfeed without finding something about autism: a new "miracle cure," a claim that "the gene for autism" has been discovered, or talk of scientists creating autistic mice. The reality, of course, is very different.
For autism research to take the next leap forward, we need perhaps three big initiatives. First, we need genetic research on the scale seen for schizophrenia : tens and eventually hundreds of thousands of participants, with good information about each one's skills and difficulties. This scale of research is needed to deal with that heterogeneity in the autism spectrum, in order to discover gene pathways, and hence mechanisms, to optimize the outcome for each individual.

Second, we need people with autism and their families to donate brain tissue when they die. These two aims are underway, thanks to initiatives (MSSNG and Autism BrainNet) funded by Autism Speaks and the Simons Foundation.

The third initiative is arguably even more important: Create open-access, globally accessible diagnostic tools for low-income settings. More than 80 percent of research is carried out in high-income countries, with a bias of samples for wealthy white individuals, but 80 percent of those living with autism are in low-income countries. Diagnostic tools are currently highly expensive and impractical in these settings.

Making ASD diagnosis and services available to all is not only a moral imperative, it is a scientific one — establishing rates and developmental trajectories in very different environments will shed light on the etiology and nature of autism. It is time for autism researchers to look outwards and think globally.