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Genetic Linkage

A Virus Envisions a Post Pandemic US

I'm tired of writing about COVID from a geneticist's point of view, so I thought I'd let a virus speak – about the pandemic's origin and future.

 

Arrival!

 

My ancestors came to the US from China in the nasal passages of a handful of airline passengers, in late 2019. A few of us descended quickly into lungs, hiding as pneumonia percolated. Some of us were forcefully ejected in droplets as our human hosts hurried through coastal US airports, riding sneezes and coughs or shot out in violent diarrhea into airport toilets, symptoms easily blamed on common colds or food poisoning. Many hapless hosts weren't sick at all, obliviously passing us to others.

 

In this way, my ancestors silently, stealthily, seeded the nation.

 

To continue reading go to DNA Science, where this post first appeared. 

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Tracing the Origins of Medical Media Hype: Failing to Mention Mice

Reading a breathless account of an amazing new medical treatment, lured in by an exciting headline, only to discover a few paragraphs in that the findings are in rodents, can at best be annoying, and at worst raise false hopes for patients and their families. A new study, long overdue, pins down one source of this common error of omission: leaving out mice in the titles of technical articles.

 

A chain reaction of mangled communication is at fault.

 

Leaving Out the Rodents

 

Missing mice happen at several points in the medical news trajectory.

 

Failure to mention that an experiment was done on non-human animals in a technical article's title can reverberate as a news release and then echo in media reports, tweets, and memes. Or, the headline of a news release or its content can ignore the mice, even if the journal article mentions them.

 

In yet another scenario, the reporter can omit the rodents. Journalists are sometimes so rushed with deadlines that they may modify a news release rather than take the time to read the technical report behind it that may indeed credit the mice and rats. Another source of the error: editors who write the headlines of news articles, omitting the mention (writers rarely write the headlines).

 

Many science journalists get ideas from the dozens of news releases posted daily at Eurekalert.org, from institutions and companies all over the world. And some releases only mention mice a few paragraphs in – or not at all.

 

Hype resulting from mouse-deficient headlines has bugged me for a long time. When I edit abstracts for a medical journal, one of my regular gigs, I alert authors who leave out model organisms from article titles.

So I was happy to read, ironically in a news release, that Marcia Triunfol at Humane Society International in Washington, DC and Fabio Gouveia at the Oswaldo Cruz Foundation in Rio de Janeiro have investigated whether mention of mice in news release headlines dampens media coverage.

 

The findings described in "What's not in the news headlines or titles of Alzheimer disease articles? #InMice," published in PLOS Biology, aren't surprising: when a scientific paper's title omits the rodent connection, journalists reporting on the paper tend to do the same. And reporters are more likely to cover papers without mice in their titles.

 

To continue reading, go to DNA Science, where this post was first published.

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Revising a Human Genetics Textbook and Countering Vaccine Hesitancy

I haven't thought or written much about human genetics since COVID hit, instead cranking out articles about the novel coronavirus and the repercussions as it evolves and spreads.

 

Now it's time to revise my human genetics textbook. The thirteenth edition of Human Genetics: Concepts and Applications came out in September 2020. I'd signed off on the final page proofs that April, back when New York City was the COVID epicenter for the US. I only had time to swap in a SARS-CoV-2 photo for one of Zika virus, and replace a flu paragraph with what we knew about COVID at that time.

 

With each revision, I think back on how the field has changed in the 20 years since the first edition. That typically means updating coverage of genetic tests and technologies – topics like cell division, Mendel's laws, DNA and RNA and protein, evolution and populations – remain the same. This time though, in the face of vaccine hesitancy, the importance of understanding basic genetics is much more compelling. The context: the vaccines work by taking advantage of the way that genes control protein production.

 

To continue reading go to DNA Science, my blog at Public Library of Science.

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The Treatabolome Will Shorten Diagnostic Odysseys for Rare Diseases

(Solve-RD)

The journey of naming an odd collection of symptoms is called, for good reason, the diagnostic odyssey. It can take years for gateway health care providers and then sequences of siloed specialists to synthesize clinical findings and a family's observations into a diagnosis.

 

Consider Hannah's Sames' journey. Hannah had gene therapy for giant axonal neuropathy in 2016, and I tell her story in my book The Forever Fix: Gene Therapy and the Boy Who Saved It. Hannah was diagnosed at age 3; she just attended her junior prom!

 

The first sign of Hannah's condition, in retrospect, was her tight curls, the consequence of buildup of an abnormal protein, gigaxonin. The second sign was her odd gait as a toddler. A pediatrician, orthopedist, and podiatrist had no idea that the feathery filaments of abnormal gigaxonin were already distorting the motor neurons whose axons stretched down the little girl's legs.

 

To continue reading, go to my DNA Science blog at Public Library of Science, where this post first appeared.

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How Viral Variants Arise

The public has had a crash course in virology. But sometimes media coverage spews jargon so fast, often without definitions or descriptions, that I wonder to what degree readers or viewers know what terms like antibody, cytokine, or mRNA actually mean.

 

"Variant" is especially problematical, when coming after "viral," because it has a plain language meaning too – variation on a theme, something just a little bit different from what we're used to. But during an epidemic, a small genetic change can have sweeping consequences, fueling a pandemic.

 

Mutations Build Variants

Variants of SARS-CoV-2 – the COVID virus – are sets of mutations. A mutation is a specific change in a specific gene.

 

Different variants have some mutations in common, so it can get confusing. For example, three variants circulating in India each has 6 or 7 mutations, three in common. The first and second variants that were discovered each has a unique mutation, but the third variant is a subset of parts of the first two. Got that?

 

To continue reading, go to my DNA Science blog at Public Library of Science, where this post first appeared.

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The H5N8 Bird Flu and Why We Should Pay Attention

Before COVID, reports of a new bird flu trickling or even sweeping out of Asia didn't garner much attention. That's certainly changed. So when two members of the China Novel Coronavirus Investigating and Research Team, who co-authored the first warning of what was to come in February 2020 in The New England Journal of Medicine, sound a new alarm, maybe we should listen.

 

In a short Insights Perspective published in Science, "Emerging H5N8 avian influenza viruses," Weifeng Shi and George Gao make the case for concern that a bird flu now in more than 46 countries across Europe, Asia, and Africa has jumped to humans. Only seven poultry farm workers in Russia were reported to have gotten sick, while trying to contain an outbreak among their feathered charges. But there must have been a time, in the fall of 2019, when COVID, too, had sickened only a few people.

 

An avian influenza virus would need to pass easily from person-to-person to seed a pandemic in people, like SARS-CoV-2 does. That's unlikely, but as we've learned, not impossible.

 

 

To continue reading, go to my DNA Science blog at Public Library of Science, where this post first appeared.

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Live to 150? That’s what some AI algorithms claim is possible. What does the science say?

We're obsessed with aging. 

 

In the quest to prolong life while remaining healthy, people have tried everything from turtle soup to owl meat to drinking human blood.

 

Russian-French microbiologist and Nobel Prize winner Ilya Mechnikov believed that a person could live 150 years with the help of a steady diet of milk cultured with bacteria. (He died at 71.)

 

It's a favorite topic of Hollywood. From Cocoon to Death Becomes Her to Chronos, the quest to extend our limited time on this planet has been a favorite focus of science fiction. Now it's edging closer to science fact.

 

A new report in Nature Communications from researchers at artificial intelligence company GERO.AI indeed points to a maximal human lifespan of 150. And they've pioneered a metric that might one day pop up on a smartphone to indicate an individual's state of aging – something more meaningful, in terms of future health, than counting gray hairs or celebrating birthdays.

 

To continue reading, go to Genetic Literacy Project, where this post first appeared.

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The age of genetically-enhanced children is approaching. Novelist Kazuo Ishiguro imagines a have-and-have not future, and it’s not pleasant

Biotech interventions to help sick children—like gene therapy—are approached with supreme caution. If a treatment has a reasonable chance of working, and especially if there aren't alternatives, potential benefits might clearly outweigh the risks, and favor running a clinical trial. 

 

But genetic modification of sperm, eggs, or embryos is a different story, even with a therapeutic goal (see GLP Ricki Lewis' Designer babies? US scientists swap DNA in embryos, replacing mutation that causes heart problems). Scrutiny is even more intense if the intervention aims not to heal or prevent illness, but to genetically enhance children, striving to somehow "improve" them.

 

Could genetic modification endow a child with high intelligence, facility with learning languages, musical or artistic ability, or mathematical genius? And what would happen to a society in which wealth determines whose children are enhanced?

Gene editing creates class-ism

 

Kazuo Ishiguro's new novel, Klara and the Sun, imagines a world in which some children are rendered exceptionally intelligent with genetic modification. The British author, recipient of the 2017 Nobel Prize in Literature, also wrote the 2005 dystopian masterpiece Never Let Me Go (and 2010 film), set at an English boarding school in the 1990s. In that alternate reality, people are cloned to provide organs for the wealthy, perishing proudly in young adulthood when they run out of spare parts.

 

To continue reading, go to Genetic Literacy Project, where this post first appeared.

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Wishbone Day Raises Awareness of Osteogenesis Imperfecta

Today, May 6th, is Wishbone Day, to raise awareness about osteogenesis imperfecta (OI).

 

Also known as "brittle bone disease," OI is a consequence of mutations that disrupt the highly organized structure of collagen, a major component of connective tissues. Collagen accounts for more than half the protein in bone and cartilage, and is also part of skin, ligaments, tendons, and the dentin of teeth.

 

Because OI is due to a deficit of collagen, eating more calcium doesn't help – the advice given to members of a family I wrote about here. Before many genes behind OI were identified, some parents of children with OI were suspected of child abuse, especially when a second child had fractures too.

 

A Collection of Collagen Conditions

 

To continue reading, go to DNA Science, my blog at Public Library of Science.

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Genomics to the Rescue for Sumatran Rhinos

Kertam, a Sumatran rhinoceros

Sumatran rhinoceroses are solitary creatures that browse the dense rainforests of Borneo and Sumatra, living in small, scattered, shrinking groups. Taking a census is challenging, although they "sing." It isn't known how many of them exist, exactly, but the number is small.

 

A multinational research team has unearthed clues in the genomes of 21 of the animals, five "historical" from the Malay Peninsula where they are extinct, and 16 modern genomes from the remaining populations on Sumatra and Borneo. "Genomic insights into the conservation status of the world's last remaining Sumatran rhinoceros populations" appears in Nature Communications.

 

 

To continue reading, go to DNA Science, where this post first appeared.

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