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Spectrum: Autism Research News

Spotted: Peer power; N of 1

by  /  1 May 2015

WEEK OF
April 27th

Peer power

When it comes to funding decisions, do peer review panels favor big names or big ideas? A study published last week in Science suggests these all-powerful panels are pretty good at picking the best proposals — ones that lead to publications that have a lot of impact. The findings help put to rest two popular misconceptions: that prestige trumps merit, and that shrinking budgets have transformed the grant application process into a lottery, Danielle Li, assistant professor of business administration at Harvard Business School, told Retraction Watch.

N of 1

Most clinical trials require a critical mass of study participants. But Nicholas Schork, director of human biology at the J. Craig Venter Institute in La Jolla, California, thinks it’s time for one-person trials, in which individuals get personalized treatment from a doctor and are followed up on to determine their response. “A major advantage of the N-of-1 approach over classical trials is that patients are no longer guinea pigs, whose involvement in a study may help only future generations,” Schork wrote in a commentary published Wednesday in Nature. In the era of precision medicine, Schork says these tiny trials could add up to big discoveries.

Need to know

A survey of nearly 7,000 people from 75 countries sends a powerful message about so-called ‘incidental findings’ in genomic research — discoveries about a person’s genetic code that no one set out to make. Roughly 98 percent of respondents said they would want to know if they had a mutation that raised their risk of a preventable life-threatening condition, according to the study, published Thursday in the European Journal of Human Genetics. Interestingly, roughly 70 percent of people from the general public said they would want to know about non-preventable life-threatening conditions, compared with just half of genetic health professionals. The findings come at a crucial time, as researchers sequence genomes by the thousands to uncover the prevalence of mutations linked to autism and other disorders.

CRISPR crackdown

The National Institutes of Health (NIH) has reaffirmed its stance on using CRISPR to edit the human genome. The bold reminder comes less than two weeks after Chinese researchers used the gene-editing tool to alter human embryos. “The concept of altering the human germline in embryos for clinical purposes has been debated over many years from many different perspectives, and has been viewed almost universally as a line that should not be crossed,” NIH director Francis Collins said in a statement released Wednesday.

Overlooking girls

New research adds to mounting evidence that autism manifests different in girls than it does in boys. Preliminary results presented Tuesday at the Pediatric Academic Societies annual meeting in San Diego suggest that girls often have subtler symptoms, such as an inability to read social cues. These symptoms tend to emerge later in childhood than classic symptoms, such as repetitive behaviors, typically shown by boys. “Since the problems experienced by girls are in social cognition and require social opportunities, they are much more likely to be unnoticed until the elementary school years,” lead researcher Paul Lipkin, director of the Interactive Autism Network at the Kennedy Krieger Institute in Baltimore, told Time.