Category: genetics retractions

Genetic disorder gets name change, but patient’s father still not happy

Credit: Online Mendelian Inheritance in Man

The leading genetic disease database has chosen a new name for a genetic condition, following complaints from a man whose son has the condition.

On Aug. 11, 2017, two days after our coverage of the situation, the Online Mendelian Inheritance in Man (OMIM) database changed the primary name of the phenotype associated with mutations in the RPS23 gene. The new name describes a set of features: “Brachycephaly, Trichomegaly, and Developmental Delay,” or BTDD.

Brachycephaly describes a condition where the back of the head is abnormally flat and trichomegaly refers to extra length, curling, pigmentation, or thickness of the eyelashes.

Marc Pieterse, of the Netherlands, has a son with the rare RPS23 mutation, one of two known patients in the world. The mutation affects ribosomes, cell components involved in protein production. On Aug. 9, we reported on Pieterse’s crusade against OMIM’s original name for the condition, which dubbed it a syndrome. He has feared that calling it a syndrome would “stigmatize” his son’s condition and tried to get the paper underpinning the OMIM entry retracted. The American Journal of Human Genetics has said it will not retract the paper.

Continue reading Genetic disorder gets name change, but patient’s father still not happy

Unearthed emails: Monsanto connected to campaign to retract GMO paper

A trove of internal documents from Monsanto, recently unsealed in a lawsuit against the agricultural biotech giant, has revealed the firm’s role in the knotty tale of a paper from the lab of a scientist known for his stance against genetically modified organisms (GMOs).

That paper is “Long term toxicity of a Roundup herbicide and a Roundup-tolerant genetically modified maize,” published in September 2012 in the journal Food and Chemical Toxicology (FCT) and retracted in January 2014. Gilles Seralini, a scientist known for an adversarial stance towards GMOs, was first author. The documents have also spurred the retraction of several pro-GMO articles on Forbes.com written by Henry Miller, a fellow at the Hoover Institution, a conservative think tank at Stanford University. Emails showed that one of the articles, which didn’t discuss Seralini’s paper, was ghostwritten by Monsanto.

The documents, posted last week by the law firm of Baum, Hedlund, Aristei and Goldman, show Monsanto engaged with a network of scientists and other commentators to spread the message that the Seralini paper was bad science and should be retracted. Seralini told Retraction Watch that this proves what he has been saying all along, that Monsanto led a concentrated effort to discredit his science and protect its bottom line. He said:

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Fearing “stigmatization,” patient’s father seeks retraction of paper on rare genetic mutation

The father of a boy with a rare genetic mutation has accused a scientist of exploiting his child by proclaiming the defect a “genetic syndrome” and naming it after herself.

At an impasse with scientists investigating, publicizing, and interpreting his son’s condition, the father seems willing to use any leverage he can muster to remove the “syndrome” entry in an online genetic disease database. Based solely on an email he obtained from the database director, the father became convinced that if the paper underpinning the entry were retracted, the syndrome would go down with it. So earlier this year, he withdrew his consent and asked the journal that published the paper for a retraction, based on improper patient consent. He has also threatened to lob accusations of research misconduct at the paper’s last author. Continue reading Fearing “stigmatization,” patient’s father seeks retraction of paper on rare genetic mutation

Researchers retract a paper when they realize they had sequenced the wrong snail’s genome

Researchers in China thought they had sequenced the genomes of two snails that help transmit diseases to other species — an important first step to stopping the spread. But their hopes were soon dashed after they realized they had misidentified one of the snails.

The researchers published their findings earlier this year in the journal Parasites & Vectors. In the paper, the authors stressed that understanding the genetic makeup of these molluscs is important because many “freshwater snails are intermediate hosts for flatworm parasites and transmit infectious diseases” to humans and other animals. They also acknowledged that identifying snail species from their appearance alone can be tricky. Continue reading Researchers retract a paper when they realize they had sequenced the wrong snail’s genome

“The data have spoken:” Controversial NgAgo gene editing study retracted

The author of a 2016 paper describing a potentially invaluable lab tool has retracted it, following heavy criticism from outside groups that could not reproduce the findings.

The paper had already been tagged with an Expression of Concern by the journal, Nature Biotechnology, which included data from multiple groups casting doubt on the original findings. Although the authors, led by Chunyu Han at Hebei University of Science and Technology in China, produced data to support their original findings, the journal has concluded — following “feedback from expert reviewers” — that the additional data “are insufficient to counter the substantial body of evidence that contradicts their initial findings,” according to an editorial released today:

Continue reading “The data have spoken:” Controversial NgAgo gene editing study retracted

Why did it take a journal two years to retract a paper after a misconduct finding?

A 2014 paper containing data manipulated by a former graduate student has finally been retracted, two years after the U.S. Office of Research Integrity (ORI) published its findings.

In August 2015, the ORI published a report that Peter Littlefield, who was working on his PhD at the University of California, San Francisco (UCSF), had committed “research misconduct by falsifying and/or fabricating data” in two papers. Littlefield agreed to correct or retract the papers–one published in Chemistry & Biology and the other in Science Signaling.  

When we contacted Chemistry & Biology back in August 2015, a spokesperson for Cell Press told us the journal was figuring out “the best way to correct the scientific record.”

Apparently that took two years. In the meantime, the journal did not issue an expression of concern or otherwise notify readers of the issues. Continue reading Why did it take a journal two years to retract a paper after a misconduct finding?

Controversial CRISPR paper earns second editorial note

Against the authors’ objections, Nature Methods has added an expression of concern to a 2017 paper that drew fire for suggesting a common gene editing technique could cause widespread collateral damage to the genome. The latest note — the second to be added in two months — alerts readers to an alternative interpretation of the findings.

When “Unexpected mutations after CRISPR–Cas9 editing in vivo” was published May 30, it immediately drew criticism from many of the top scientists working with CRISPR, including those associated with companies seeking to develop CRISPR-based therapies for humans. Share prices for the two largest companies pursuing CRISPR therapies, Editas Medicine and Intellia Therapeutics, dropped following publication of the article.

On June 14, the journal published a notice to alert readers to “technical criticisms” of the paper. Apparently, that wasn’t sufficient, because the journal is now providing more details on the nature of the criticisms, despite the objections of the paper’s authors:

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“An evolving and inconsistent tale:” Biochemist barred from federal grants for five years

In 2013, Frank Sauer blamed “visual distortion” for problems with the images in his papers and grant applications. That explanation gave way to the production in 2016 of a mysterious and ominous letter from an unnamed researcher claiming that they’d sabotaged Sauer’s work in a plot of revenge. Soon after, Sauer was claiming that a mysterious cabal was plotting to undermine the output of German researchers.

Whatever Sauer was selling, Leslie Rogall, an administrative law judge for the U.S. Department of Health and Human Services’ Departmental Appeals Board, wasn’t buying.

Rogall has concluded that the Office of Research Integrity acted properly in 2016 when it found Sauer — a former faculty member in biochemistry at the University of California, Riverside — guilty of misconduct. His offense: doctoring images in three published papers and seven grant applications to the National Institutes of Health.

In a May 22 decision first posted today, she writes (italics hers):

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Instead of retracting a flawed study, a journal let authors re-do it. It got retracted anyway.

When a journal discovers elementary design flaws in a paper, what should it do? Should it retract immediately, or are there times when it makes sense to give the researchers time to perform a “do-over?”

These are questions the editors at Scientific Reports recently faced with a somewhat controversial 2016 paper, which reported that microRNAs from broccoli could make their way into the nuclei of human cells — suggesting that the food we eat could affect our gene expression.

After the paper appeared, researcher Kenneth Witwer at Johns Hopkins — who was not a co-author — posted comments on PubMed Commons and the paper itself, noting that the authors hadn’t properly designed the experiment, making it impossible for them to detect broccoli microRNAs. 

But instead of retracting the paper, the journal decided to give the authors time to do the experiments again, this time with correctly designed molecular biology tools. When that failed, they retracted it — and as part of the notice, reported the exact opposite conclusion of the original.

Witwer said the authors did a “tremendous job” with the follow-up study, but he still thinks the journal should have retracted the paper immediately. Letting the authors redo it is “a dangerous precedent to set,” he told us:   

Continue reading Instead of retracting a flawed study, a journal let authors re-do it. It got retracted anyway.

Journal alerts readers to “technical criticism” of CRISPR study

A Nature journal has posted a editor’s note to a recent letter on potential unintended consequences of CRISPR gene editing, after an executive at a company trying to commercialize the technology said the paper should be retracted.

The original article, published on May 30 as a correspondence in Nature Methods, suggested that using CRISPR in mice can lead to unexpected mutations. But last week, the journal added an “Editorial note” online. Nature Methods says the notice is not an expression of concern, which would be a stronger suggestion that the paper is problematic; it simply wants to alert readers to the fact that, as the note states:

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