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Genetic Linkage

New Target for Treating Huntington’s Disease: Controlling Runaway DNA Repair

When results of a clinical trial of a treatment for a rare disease are disappointing, feelings of despair among hopeful affected families resurface – especially if the only options are repurposed drugs. That's the case for Huntington's disease, an inherited neurological condition that affects about 30,000 people in the US, 16 percent of them children.

 

The HD community is reeling from two such setbacks. But a new approach to halting the runaway expansion of the HD gene (called HTT) that lies behind the illness may reignite hope. The strategy focuses not on the HTT gene itself, but on another with which it interacts – a gene that takes part in repairing damaged DNA. Results appear in Cell Reports.

 

An "Expanding Repeat" Disease

 

"Horse-and-buggy doctor" George Sumner Huntington first described HD in 1872.

 

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

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Returning to Live Music and How a Tiny Mutation Sent Delta All Over the World

Ann Wilson, of Heart fame.

A few nights ago I went to my first live music show since pre-pandemic times: Ann Wilson, the vocalist from Heart. She and her new band were at The Egg, a small ovoid-shaped venue in Albany, New York. We were in the third row, very close to the stage. All of us wore masks, and should a smidge of nostril emerge, an admonishing usher materialized instantly.

 

"It's great to see all of your smiling eyes!" joked Ann as she looked out at the limited-capacity audience. The performers were unmasked, Ann belting out the tunes, the guitarist next to her writhing in the throes of guitar-face, a malady in which a man playing a guitar assumes a simian visage, like Caesar in Rise of the Planet of the Apes caught deep in thought. Who knew that guitar-face would one day deter spread of a virus?

 

The show was amazing, full of rock classics, Heart tunes, and songs Ann wrote during lockdown. COVID restrictions just couldn't reign in long-ingrained concert behavior. And so we all belted out Dream On and Barracuda along with Ann and her band the Amazing Dawgs, our masks undulating to the beat, as I hoped fervently that none of the oldish audience would keel over from asphyxiation.

 

"An Experimental Pop Concert" Simulates Viral Spread

 

This morning I was happy to see a new paper, "The risk of indoor sports and culture events for the transmission of COVID-19," published in Nature Communications. Stefan Moritz and colleagues in Germany staged "an experimental pop concert" in August 2020 and found that good ventilation and "suitable hygiene measures" could limit virus-carrying aerosols and droplets.

 

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

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The Tomorrow War on Amazon Prime Echoes COVID: Science from the Past Saves Humanity’s Future

Scary monsters, time travel, and a female protagonist plucked from The Handmaid's Tale cast: what could be better?

 

A Derivative Plot with Interesting Embellishments

 

In Amazon Prime's new "military science fiction action film" The Tomorrow War, released July 2, young time travelers from 2051 arrive in the middle of a World Cup match near the end of 2022 with a message: humanity is on the brink of extinction from being food for the "Whitespikes." The visitors need new troops to jump ahead to the future. At first I thought the characters were saying "white stripes" and expected the appropriate soundtrack, but the spikes are part of the enemy's phenotype.

 

The Whitespikes appear suddenly, ducking radar and satellites, in November 2048, in northern Russia. They gobble through humanity quickly, leaving a mere half million people. So dire is the future need that military folks and civilians are selected from the populous past for week-long deployments, with no time for training. Only a third survive.

 

The recruits painfully get arm implants that receive signals from a hovering wormhole-based "jumplink" to suck them up into the future. The group ascension reminded me of the people reaching age 30 in Logan's Run floating joyously upward as they attain "Carousel," aka death. The jumplink is far more massive and sophisticated than the clunky bike-like vehicle that hurtled time travelers centuries forward in H. G. Wells' The Time Machine. The sucked-up ones in 2022 are then unceremoniously dumped into a future crawling with fire and destruction and hordes of leaping, slathering, hungry "aliens."

 

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

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Scary Variants and Vaccine Hesitancy Set Up a Perfect Storm – for the Virus

As people in the US grapple with a return to masking to stay ahead of the delta and lambda variants and their coming spawn, researchers are increasingly connecting current epidemiology to modeling predictions. The news isn't good, but we can stop what now seems inevitable – with widespread vaccination.

 

The Cape Cod Cluster

 

On Tuesday, July 27, CDC director Rochelle Walensky updated the media on new guidance recommending that everyone, including the fully vaccinated, wear masks in indoor public settings in areas of substantial and high transmission.

 

"The delta variant is showing every day its willingness to outsmart us and be an opportunist in areas where we've not shown a fortified defense against it. In recent days new data on outbreaks show the delta variant behaves differently than past strains. In rare occurrences, some vaccinated people are infectious after vaccination and may be contagious. This new science is worrisome and unfortunately warrants an update to the recommendations," Walensky explained. (I forgive her anthropomorphizing because she uses "data" as a plural.)

 

News media quickly zeroed in on Cape Cod as the site of the outbreak that prompted the change, and by Friday July 30, CDC's weekly publication the MMWR provided the details:

 

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

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Cats’ Genomes Make Them Good Models for Human Disease

Over the years, I've shared my home with 17 felines. Several have perched on my printer while I cranked out many articles and books on genetics.

 

Little did I know that the genome of Felis catus is subtly similar to my own. Now, the aptly named Leslie Lyons, an associate professor at the University of Missouri Department of Veterinary Medicine & Surgery, has published an article in Trends in Genetics, "Cats – telomere to telomere and nose to tail, that makes the case for cats as models of human disease. (Telomeres are chromosome tips.)

 

"Approximately 33% of households in the USA own a cat, and as pets, cats have evolved from vermin control to beloved family members," Lyons writes. In the US, 42.7 million households include at least one feline.

 

Cats Are More Genetically Diverse Than Us

 

I've always been amazed at genome analyses that indicate species that are more genetically diverse than we are, when one chimp looks more or less like another to us. Cats are more genetically diverse than us, too.

 

The first genome sequence of a domestic cat was published in 2007. That individual was a 4-year-old Abyssinian named Cinnamon, whose lineage traces back several generations to Sweden.

 

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

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Katla on Netflix: Volcanoes, Glaciers, and Meteorites, Oh My!

I usually write about a sci fi book or film midsummer. That's more necessary this summer than ever, when science reality – half a population refusing vaccination inviting natural selection to favor ever-deadlier (and perhaps vaccine-resistant) viral variants – is far more alarming than anything anyone could make up. So I was easily sucked into Katla, a terrific 8-part series on Netflix.

 

As the first episode opens, it's a year after a massive eruption of Katla, a volcano that looms over the small seaside village of Vík in southern Iceland, about 115 miles from Reykjavik. Until the blast, a glacier capped Katla. In real life, the human population of the village boomed to 683 in 2018, thanks to increased tourism, but I suspect it may have ebbed again due to the pandemic.

 

In the show, strange things start to happen among the holdouts who don't leave the ashy landscape for Reykjavik. Beings begin to stagger out of the hell in the distance, covered in a black goo: animals like birds, cows, and goats, but then people too. And that's when things begin to get weird, because the people who come forth from the volcano were dead.

 

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

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Looking Into a COVID Lung Using Spatial Transcriptomics

As the early weeks of the pandemic unfolded and health care workers struggled to save so many lives, researchers began tracking the path of destruction of SARS-CoV-2, focusing at first on the tango between cells of the lung and of the immune system.

 

Just as mRNA vaccine technology was years in the making, so was a powerful way to illuminate cellular pathology: single-cell transcriptomics using single-cell RNA-Seq, aka simply RNA-Seq. It detects the abundance of all unique messenger RNA (mRNA) molecules in a cell, collectively called the transcriptome. RNA-Seq reveals the suite of proteins a cell produces in response to a stimulus – such as an influx of viruses. The technology is more than a decade old.

 

But cataloging the abundance of mRNAs in a lung cell, or in any cell, isn't meaningful without the context of the organ of which it is a part. It's a little like counting the number of times the words "the," "a," and "there" appear in a novel and trying to deduce the narrative.

  

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

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Hulu’s False Positive Misses the Mark in Evoking Rosemary’s Baby

I looked forward to Hulu's original horror film False Positive, pitched as a modern-day Rosemary's Baby. It premiered at the Tribeca Film Festival June 18.

 

Ilana Glaser of Broad City fame wrote the screenplay and stars as pregnant protagonist Lucy. Although the film cherrypicks memorable scenes from its predecessor, it nonetheless fails on several levels. The most obvious gaffe is the title: Lucy conceives, so there's no false positive! The new film offends in many ways, but for me the ultimate explanation – spoiler alert ahead – which was "ripped from the headlines," hit a little too close to home.

 

Rosemary's Baby

 

Ira Levin published the spellbindingly original Rosemary's Baby in 1967. The film came out a year later, starring Mia Farrow. Levin went on to tackle dystopia, writing 1972's The Stepford Wives and in 1976, envisioning the cloned Nazis of The Boys from Brazil.

 

Protagonist Rosemary Woodhouse and her husband Guy have just moved into a monstrous apartment building on the Upper West Side of Manhattan that is actually the Dakota, the site of John Lennon's shooting in 1980. Guy is a struggling actor whose luck begins to turn when he befriends creepy neighbors Minnie and Roman Castevet. In an oddly vivid nightmare, Rosemary is raped by a monster with gleaming yellow eyes, and the next morning, she awakens to see claw marks on her skin. Soon after, she learns she's pregnant.

 

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

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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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