Category: Am J Human Genetics

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

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

Journal retracts paper eight months after U.S. Feds announce findings of misconduct

In August, the U.S. Office of Research Integrity announced that a former postdoctoral fellow at the National Human Genome Research Institute (NHGRI) doctored data in two published papers.

It took one journal a little longer than five months to remove the researcher’s name from the co-author list, and replace one figure.

It took the second journal more than eight months to retract the paper.

Here’s the notice for “A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9,” published by the American Journal of Human Genetics (AJHG):

Continue reading Journal retracts paper eight months after U.S. Feds announce findings of misconduct

Former NIH postdoc doctored data

ori-logoA genetics researcher included falsified data in two published papers, according to a report by the U.S. Office of Research Integrity (ORI) released today.

At the time of the misconduct, Andrew Cullinane was a postdoctoral fellow in the Medical Genetics Branch at the National Human Genome Research Institute (NHGRI). According to his LinkedIn page, he is now an assistant professor at Howard University in Washington D.C. The university’s College of Medicine lists him as an assistant professor in the Basic Sciences/Anatomy department.

As today’s notice in the Federal Register reports, Cullinane Continue reading Former NIH postdoc doctored data