Do most cases of autism result from extremely rare and spontaneous genetic mutations or from more common variations? That question has engendered the liveliest debate so far at the SFARI annual meeting.
Most researchers estimate that rare variants account for about 15 percent of autism cases. But geneticist David Ledbetter bet $1 for every person in the room yesterday that that number will turn out to be at least 50 percent.
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I’m here at SFARI’s first annual meeting in New Orleans, and last night in her keynote address, genetics giant Mary Claire King predicted that as scientists study autism and schizophrenia, they are likely to find thousands — yes, thousands — of big or small unique gene mutations in hundreds of genes involved in dozens of pathways.
These staggering numbers may help explain what’s always puzzled me about autism: that it’s a fairly common disorder with strong genetic roots, and yet includes an incredibly diverse range of behaviors.
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One day in late 2004, television art director Karen Steward visited the penthouse floor of a glass office building in Los Angeles to sit down with UCLA epidemiologist Sally Blower and the half dozen members of Blower’s Disease Modeling Group and talk about television. Steward was enlisting Blower’s scientific expertise for the third episode of the CBS drama NUMB3RS, in which an FBI agent’s brother uses mathematical models to determine the origin of a mysterious outbreak of Spanish flu.
Presenting the multicolored script, “I asked her to show me graphics on her computer screen that show how to track a disease from one place to another. She just laughed at me,” Steward recalls.
That’s because the crux of tracking disease lies in relatively simple equations, which Blower drew out and explained for Steward on a large white board.
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