Spotted A roundup of autism papers and media mentions you may have missed.
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Deceitful DNA; grant gambit; autism glass

by  /  15 April 2016

WEEK OF
April 11th

Deceitful DNA

A South Carolina woman is suing Quest Diagnostics, one of the world’s largest laboratories, on claims that the company failed to flag the genetic seizure disorder that led to her 2-year-old son’s death. As BuzzFeed News reports, “such litigation underscores the growing pains of the young and booming genetic-testing industry.”

The boy began having seizures when he was 4 months old. His doctors ordered genetic testing, which revealed that he had a mutation “of unknown significance” in the SCN1A gene.

The boy’s mother, Amy Williams, learned after his death that he had Dravet syndrome, a rare condition usually caused by SCN1A mutations. She says Quest Diagnostics should have flagged the mutation as potentially disease-causing.

Should Williams be successful in her case, it could rock the estimated $3 billion genetic-testing industry, Laura Hercher, instructor in Sarah Lawrence College’s graduate program in human genetics, told BuzzFeed News.

The case highlights the challenge of determining a mutation’s clinical significance, according to Robert Resta, a genetic counselor at the Swedish Cancer Institute in Seattle, Washington. “There is no single gold standard that can be used to determine clinical significance, which involves complex statistical, genetic and biological analysis,” Resta writes in a post on The DNA Exchange, a site devoted to genetics-related issues. “Two equally capable labs can look at the same set of data and come up with diametrically opposite conclusions.”

Quest and its subsidiary, Athena Diagnostics, have filed a motion to dismiss Williams’ suit.

Sources
The DNA Exchange / 06 Mar 2016

Everyone’s worst nightmare

Grant gambit

A British researcher has successfully appealed a rejected grant application, according to an article in last week’s Nature.

Peter Coveney, professor of computational science at University College London, says he hopes his victory will encourage others to speak up when they feel faulted by funding agencies.

Coveney’s decision to appeal the rejection of his 5-million-euro grant application by the European Commission represents a rare move. Of more than 106,000 grant applications submitted to the European Commission between 2007 and 2013, about 80 percent were rejected and 3,683 were appealed. Fewer than 10 of these appeals were successful, according to Nature.

Coveney hired a lawyer to challenge the commission’s decision, who discovered that the grant evaluation process was flawed. Although some researchers disagree with Coveney’s strategy, he says it was warranted. “If your research is in jeopardy as a part of poor decisions, then people should be prepared to challenge them,” he told Nature.

Autism glass

A graduate student at Stanford University has won a $15,000 “Cure it!” Lemelson-MIT Student Prize for his ‘Autism Glass’ project. With the help of autism researcher Dennis Wall, the student, Catalin Voss, developed emotion-recognition software that tells Google Glass users whether the person they are looking at is happy, sad or angry, Scientific American reports.

Voss recruited 80 children with autism and 20 without the condition to test his invention and says the results have been positive so far. Teachers say that students who use the software seem more engaged and make better eye contact. Voss is working on an upgrade that will allow the system to track the emotions of several faces simultaneously. He says his goal is to help children with autism respond appropriately to others’ facial expressions.

Sources
Scientific American / 12 Apr 2016

Autism Glass takes top student health tech prize

Jilted journal

The oft-cited New England Journal of Medicine is under attack for what critics say is a reluctance to address errors and a tendency to respond to complaints with “a paternalistic arrogance,” according to a story published last week in ProPublica. The prestigious journal has also resisted calls for open access to its papers, and drawn criticism for its lack of transparency when it comes to conflicts of interest.

Many of these feuds have been fodder for editorials and opinion pieces in other academic journals. In January, for example, the journal’s editor-in-chief Jeffrey Drazen and deputy editor Dan Longo published a piece that was interpreted as deriding data-sharing efforts. The editors tried to backtrack, but many saw the flub as as evidence that the journal “has steadfastly clung to an increasingly antiquated view of medical journals as sole arbiters of what should be made public and whether dissenting views should be heard,” ProPublica reported.