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

“The paper is extremely flawed:” Journal retracts article linked to vaccines

A journal has retracted a 2016 paper after receiving criticism from outside researchers who raised concerns about its methodology and data.

The paper shares multiple authors with another paper that linked the vaccine for human papillomavirus (HPV) to behavioral problems in mice. Last year, a journal removed the study; later that year, the authors published a revised version in another journal. The latest retracted paper focuses on the antibodies present in a form of lupus.

Yehuda Shoenfeld at Tel-Aviv University in Israel, the corresponding author on both this latest retraction and the HPV vaccine paper, recently edited a textbook that explored how vaccines can induce autoimmunity in some people.  He told us the 2016 lupus paper does have a link to vaccines [his emphasis]:

Continue reading “The paper is extremely flawed:” Journal retracts article linked to vaccines

What should journals do when peer reviewers do not disclose potential conflicts?

Peer reviewers, like authors, are supposed to declare any potential conflicts of interest. But what happens when they don’t?

Take this case: In a court transcript from Feb. 23, 2017, Bryan Hardin testified that he was a peer reviewer on a 2016 paper in Critical Reviews in Toxicology, which found that asbestos does not increase the risk of cancer. In the deposition, Hardin—who works at the consulting firm Veritox—also said that he has testified in asbestos litigation on behalf of automakers, such as Ford, General Motors, and Chrysler, but said he had not disclosed these relationships to the journal.

Last year, the first author of the 2016 review withdrew a paper from another journal (by the same publisher) which concluded asbestos roofing products are safe, following several criticisms — including not disclosing the approving editor’s ties to the asbestos industry. In this latest case, the journal told us it believes the review process for the paper was up to snuff, but two outside experts we consulted said they believed Hardin’s relationships — and failure to disclose them — should give the journal pause.

We obtained a copy of the transcript from Christian Hartley, who was representing a man suing a mining company because the man developed cancer after being exposed to asbestos at work. When Hartley asked Hardin whether he had told the journal about testifying for companies involved in asbestos litigation, Hardin responded:

Continue reading What should journals do when peer reviewers do not disclose potential conflicts?

Journal corrects paper by researcher sanctioned for misconduct

A biology journal has issued a correction to a 2014 paper by a researcher with 11 retractions, citing “inadvertent errors” that don’t affect the conclusions.

The researcher, Rony Seger, was recently sanctioned by his institution (The Weizmann Institute in Israel) following a finding of “serious misconduct” involving data manipulation. Specifically, the institute barred him from supervising graduate students, even future ones; his lab is now dedicated to replicating his previous work, with the help of a technician.

Last month, Michal Neeman, vice president of The Weizmann Institute of Science, told us she wasn’t sure how many additional papers by Seger would need to be retracted or corrected.

Recently, one more was revealed — in the August issue of Molecular and Cellular Biology, the following correction notice appears:

Continue reading Journal corrects paper by researcher sanctioned for misconduct

JAMA tells readers: “Caution advised.” Here’s why.

Last week, JAMA issued some unusual notices, letting readers know they should use caution when reading an editorial and letters associated with now-retracted articles by a bone researcher in Japan.

The notices — for papers by Yoshihiro Sato, now up to 14 retractions — remind readers not to heed the results of the now-retracted papers, and alert them to read any associated materials (specifically, an editorial in JAMA and letters in JAMA Internal Medicine) with caution.

The text of the notices describes them as “formal correction notices;” we asked Annette Flanagin, executive managing editor at The JAMA Network, why they chose that approach, instead of an expression of concern or retraction:

Continue reading JAMA tells readers: “Caution advised.” Here’s why.

Elsevier retracts entire issue after mistakenly publishing it online

Publishing giant Elsevier has retracted an entire issue of one of its journals because the contents — abstracts from a conference about child neurology — were never supposed to make it online.

We discovered the retraction after realizing that every aspect of the issue in Brain & Development had been retracted, including the cover, editorial board, and the contents.

We contacted Elsevier, and a spokesperson told us:

Continue reading Elsevier retracts entire issue after mistakenly publishing it online

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

“Right to be forgotten” takes down BMJ’s 15-year-old film review

A subject in a documentary film about the psychology of religious ideation has pushed the BMJ to take down its review of the film, based on a complaint citing a European internet privacy rule.

On July 3, BMJ posted a retraction notice for an article that barely said anything:

This article has been retracted by the journal following a complaint.

The 2002 article is a review of a documentary film entitled “Those Who Are Jesus,” directed by Steven Eastwood, a British filmmaker. The review has been removed from the BMJ site, as well as PubMed.   

BMJ told Retraction Watch that it took down the film review in response to a European citizen exercising his or her “right to be forgotten,” an internet privacy idea that, according to the European Union, ensures:

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Third retraction for former rising star found guilty of misconduct

A once-prominent researcher in the field of infectious disease — who was found guilty of misconduct last year— has had a third paper retracted, a 2006 article in PNAS.

Last year, the University of Dundee in Scotland found that Robert Ryan had committed research misconduct, which included misrepresenting clinical data and duplicating images in a dozen different publications. After a failed attempt to appeal the decision, Ryan resigned.

In April, we covered Ryan’s first two retractions – a 2012 paper in Molecular Microbiology, which cited image errors, and a 2011 paper in Journal of Bacteriology, which cited image duplication.

Now, PNAS has retracted a 2006 paper, which cites potential image duplication as well as “irregularities” in the data.

Here’s the retraction notice for “Cell–cell signaling in Xanthomonas campestris involves an HD-GYP domain protein that functions in cyclic di-GMP turnover:”

Continue reading Third retraction for former rising star found guilty of misconduct

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