New genomic technology called high-throughput sequencing is discovering numerous new genes associated with autism spectrum disorder, reports an article published this month in the journal Neuron.
The technology allows researchers to obtain the sequence of all 22,000 human genes and the entire human genome in one experiment, revealing that the genetic makeup of autism is more complicated that previously believed.
"HTS shows us that there are not just a few mutations, but potentially hundreds of mutations that are linked to autism" lead author Joseph D. Buxbaum, director of the Seaver Autism Center at the Icahn School of Medicine at Mount Sinai, said in an announcement. "By identifying the many genetic roots of this disorder, we can better understand its biology, which in turn will allow us to develop more tailored treatments for individuals. It is a transformative time for genetic research in autism"
Buxbaum also is co-founder and co-director of the Autism Sequencing Consortium, a large multisite research collaboration.
Included among the discoveries detailed in the paper are:
- The "staggering degree" of genetic heterogeneity in autism.
- The identification of an increasing number of specific genes and chromosomal intervals conferring risk.
- Genes associated with autism that overlap with those associated with other illnesses, such as intellectual disability and epilepsy.
Researchers have discovered identified 50 to 100 specific genes and 20 to 40 chromosomal loci conferring risk. In addition, they've found six mutations developed in the sperm or ovaries of parents that could become the targets of future treatments.
While 8,000 to 10,000 families participate in the consortium's research, the paper suggests many more will be needed to speed up gene research. It also calls for greater collaboration to integrate findings with those on other psychiatric disorders. Mount Sinai has developed one of the largest academic supercomputers in the world to address these goals, the paper says.
EHR data combined with patient DNA offers the potential to identify individuals at risk for diseases and to study the causes of disorders including autism, according to a new series of studies presented in November at the annual meeting of the American Society of Human Genetics.
Meanwhile, researchers at the Georgia Institute of Technology have developed special gaze-tracking glasses and facial-analysis software to help detect "problem behaviors" among autism patients. And researchers at the University of Minnesota are incorporating Microsoft's Kinect sensors into a program to create robotic devices and computer vision algorithms to diagnose disorders such as autism, attention deficit disorder and obsessive compulsive disorder.