As the cost of whole-genome sequencing plummets, this family-based approach will reveal candidate genes not just for rare diseases but for common, complex disorders such as autism, experts say.
“It really shows the power of the technology,” notes Michael Zwick, assistant professor of human genetics at Emory University, who was not involved with either study.
Zwick’s team is searching for genetic causes of autism by sequencing the X chromosome in boys with the disorder. “Whole-genome sequencing is certainly on the near horizon for autism,” Zwick says.
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In the autism world, oxytocin is hot — it’s one of the only strong candidates for treatment — but if you believe one group of researchers, some of the most talked-about data is more smoke than fire.
People with autism are known to be rigid, often sticking to strict schedules and reacting poorly even to small changes in their daily routines. Could their inability to change plans be part of a broader cognitive problem?
Brain cells are in constant motion. Ions rush in and out of synapses, the nubs that transmit messages between neurons, and trigger hundreds of protein interactions. Somehow, this chain of signals travels down neuronal branches to the cell body, where it can affect the expression of thousands of genes.
In the past year or two, we’ve seen the launch of dozens of studies analyzing the genomes of thousands of people with autism. The data — at least in aggregate form — is incredibly valuable to researchers. The participants, on the other hand, are almost always kept in the dark about their own DNA.
The human brain holds a mind-boggling 100 billion neurons. And each of those cells makes anywhere from 1,000 to 10,000 connections to other neurons.
