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Genetic Linkage

Would you agree to be infected with COVID for science? Intentional 'challenge' studies underway as researchers explore new vaccines and treatments

(hVIVO)

Lauren Thomas, who just turned 26, is trying to get into a clinical trial at the University of Oxford, where the American is in a master's program in data science. She's seeking to be intentionally reinfected with SARS-CoV-2, the virus that caused her bout with COVID-19 back in October.

 

Thomas had a mild case – just a fever. So now she's volunteering to help researchers understand the aftermath of infection, waiting to hear whether she'll get into the clinical trial. In the meantime, she's an organizer for 1daysooner, a non-profit advocacy group for people wishing to participate in research and launched in April 2020. A major focus has been joining clinical trials for COVID vaccines.

 

Why would anyone sign up for a second encounter with the virus that has shattered the world?

 

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

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3 Possible Origins of COVID: Lab Escapee, Evolution, or Mutator Genes?

B.1.1.7 variant (NIAID)

"Virus outbreak: research says COVID-19 likely synthetic," shouted the headline in the Taipei Times on February 23, 2020. The idea that the novel coronavirus SARS-CoV-2 arose in a virology lab in China – by accident or as a bioweapon – has sparked an undulation of accusation and explanation ever since.

 

The latest chapter: An "open letter" in the April 7, 2021 New York Times, calling for "a full investigation into the origins of COVID-19." The two dozen scientists who signed the letter cite the continuing absence of a "robust process" to examine critical records and biological samples. Their argument responds to the WHO's March 20 press event that barely considered an origin other than from a natural spillover.

 

But two types of new information may counter the lab escapee hypothesis: filling-in-the-blanks of mammals that may have served as "missing links" in the evolution of disease transmission, and the rapid rise of viral variants reflecting a tendency to mutate that may underlie SARS-CoV-2 seemingly bursting from out of nowhere.

 

So here is my view, as a geneticist, of three possible origins of SARS-CoV-2:

 

1. Bioweapon – an engineered pathogen or escape of a natural candidate

 

2. Gradual evolutionary change through intermediate animal hosts, mutating along the way and becoming more virulent

 

3. "Mutator" genes that trigger mutations in other genes, speeding evolution

 

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

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Huntington’s Disease: 2 Steps Backward, 1 Step Forward

Last week's DNA Science post considered the ebb and flow of treatment possibilities for Alzheimer's disease. This week, it's Huntington's disease.

 

Like Alzheimer's, the less familiar HD also affects the brain, but HD is always inherited and is much rarer. The only treatments for HD manage symptoms, some of them prescribed off-label, borrowed from other conditions. A treatment that addresses the underlying cause of the disease, which delays onset or slows progression, has been elusive for decades.

 

A Disease Like No Other

 

HD is one of 40 "expanding repeat" diseases. A tiny part of a gene repeats many times, resulting in an encoded protein burdened with extra amino acids that interfere with its folding, rendering the protein sticky. In HD, mutant huntingtin protein gums up neurons in the brain's striatum, blocking signals essential to control movements and to think. Behavior changes too – anger and aggression may soar, as irritability, loss of impulse control, and confusion reign. The white matter part of the brain – the axons of those neurons – shrinks.

 

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

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Alzheimer’s Treatments in the Pipeline and the False Promise of Prevagen: Distinguishing Hope from Hype

 
 
 

The avalanche of TV ads for Prevagen that coincided with my reaching Medicare age has inspired me to investigate what's coming for Alzheimer's disease (AD) – real treatments. Prevagen is not that.

 

Deceptive Advertising

 

The scenes, unending lest they immediately vanish from the viewer's disintegrating memory, show gorgeous older folks, especially couples, enjoying life and claiming that Prevagen keeps them thinking clearly, implying that they wouldn't have otherwise. A banner on the lower right proclaims "Prevagen improves memory." Yet there's no evidence that this is in fact true.

 

Prevagen pitches don't mention the class action lawsuit against Quincy Bioscience that was settled in 2020. Customers who had their receipt could get $70 back, and those who didn't, a generous $12. The red flag? Those claims to improve memory.

 

Prevagen, a "brain health supplement" and not a drug, falls into that regulatory backwater for products skirting rigorous clinical trials. The settlement demanded the company stop the claims, but "Buy Prevagen® Brain Health & Memory Improvement Supplements" appears instantly on Google. The asterisk above "Supplements" is the standard disclaimer: "These statements have not been evaluated by the Food and Drug Administration. This product is not intended to diagnose, treat, cure or prevent any disease."

 

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

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Science Writing in the Age of COVID-19

It's been a strange and busy 15 months for science journalists.

 

Each day, throughout the day, our inboxes overflow with the latest from the technical medical and science journals – tables-of-contents, abstracts, news releases, and the never-ending stream of article preprints. We jumpstart the journals by going straight to medRxiv and bioRxiv, aka "med-archive" and "bio-archive," where investigators post articles before peer review.

 

Where We Get Information

 

It's a deluge, an unrelenting barrage of new reports from the Science and Nature family of journals; the medical journals like JAMA, the Lancet group, and the NEJM; and publications that cover more basic science, like Cell and the journals from Public Library of Science, which has sponsored this blog since 2012. The journals send wrap-ups on the weekends, in case we've missed anything.

 

The clearinghouse for news releases for journalists, Eurekalert, provides information from a wide range of publications, government agencies, academic institutions, research centers, nonprofits, and companies, with quotes from experts and images and videos we can use. Eurekalert added a COVID tab to the topics menu early in the pandemic. Much appreciated!

 

As we try to stay ahead of our inboxes, we're invited to webinars, zooms, and podcasts, all wonderfully helpful in crafting our stories.

 

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

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On the Anniversary of the Pandemic, Considering the Bioweapon Hypothesis

A year ago, the Director General of the World Health Organization, Tedros Adhanom Ghebreyesus, delivered the message that would divide time:

 

"WHO has been assessing this outbreak around the clock and we are deeply concerned both by the alarming levels of spread and severity, and by the alarming levels of inaction. We have therefore made the assessment that COVID-19 can be characterized as a pandemic."

 

What followed was a call to action to all. "We have rung the alarm bell loud and clear." And instantly, the redundant "global pandemic" ricocheted across the media, reverberating still.

 

The name of the enemy had changed quickly as 2020 began, from the "Wuhan coronavirus" to "2019 novel coronavirus" shortened to "2019-nCoV," and finally to SARS-CoV-2, acknowledging similarity to SARS, circa 2003-2004.

 

Whatever it's name, did SARS-CoV-2 have an older guise, perhaps in a lab?

 

The Bioweapon Hypothesis

 

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

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Is COVID Optimism Finally Overtaking Pessimism? Harvard Experts Weigh In

Glimmers of hope are beginning to shine through the gloom of the past year. That was evident in a recent webinar that the Massachusetts Consortium on Pathogen Readiness (MassCPR) held to "demystify" the new viral variants. Each consists of several mutations.

 

Will the variants fuel "a novel stage of contagion, COVID 2.0?" opened George Daley, MD, PhD, dean of Harvard Medical School. "What has been unsettling is how many times mutations have cropped up independently in infected patients across the globe and in petri dishes. This is a consequence of Darwinian evolution by natural selection in real time," he added. The fact that the virus, SARS-CoV-2, has mutated in the same ways at different times and places suggests that the changes benefit the virus.

 

Also disturbing is that once variants appear, they proliferate. "That suggests the virus is more contagious, or replicates faster, so that it takes over the outbreak," said Jeremy Luban, MD, from the University of Massachusetts Medical School. Most mutations are neutral; we need to worry when they combine into "variants of concern," aka VOC. "They could permit the virus to escape immune control that's been established in a person from prior infection or from a vaccine," Luban added.

 

The "big three" variants of most concern now have hard-to-remember numerical names, which avoid stigmatizing a place: B.1.3.5.1 variant (South Africa), B.1.1.7 (UK), and P.1 (Brazil). The last one may be the worst to arise, so far. It first came to attention in Manaus, Amazonia. "Up to 70% of the population had been infected and they had developed what we'd consider herd immunity that would prevent new infection," Luban explained. The explosion of hospitalizations and deaths in December, a second wave, coincided with the appearance of the P.1 variant. "Many mutations in it raise concerns about whether the virus is resistant to the immune response against the first virus," he added.

 

Tackling variants requires asking three questions, Luban said:
• Do they enhance transmission?
• Do they permit reinfection?
• Do they decrease vaccine efficacy?

 

Fortunately, the vaccines so far are doing their job. Here are 6 pieces of good news.

 

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

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Rare Disease Day 2021: Gene Therapy Ups and Downs, Again

I can't believe it's been a decade since I researched and wrote The Forever Fix: Gene Therapy and the Boy Who Saved It. Since then I've shared stories of other families doing amazing things to help researchers develop treatments for their loved ones' rare diseases. The need is all the more compelling in these days of the pandemic.

 

Now entering its fourth decade, gene therapy continues along what seems at times a never-ending rocky road, riding the waves of fantastic success and plunging setbacks.

 

A Slow Start

 

The US has approved just two gene therapies. Luxturna has provided vision to patients with a form of retinal blindness (the basis of The Forever Fix), while Zolgemsa treats spinal muscular atrophy, a disease typically lethal in young children.

 

The latest in a series of setbacks, beginning in 1999 with the death of 18-year-old Jesse Gelsinger, came just yesterday. The FDA placed a clinical hold on two gene therapy trials for sickle cell disease, following reports of blood cancer in two trial participants. But that's not all.

 

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

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Evoking Jeff Goldblum’s ‘The Fly’: Does growing human ‘brains-in-a-dish’ and creating chimeras cross a bioethical line?

Bits of human brain growing in a lab dish can reveal a great deal about how a disease begins and unfolds. But because the brain is also the seat of our consciousness and individuality, does disembodying it for science's sake pose bioethical challenges? 

 

That's what Stanford Law School researcher Henry (Hank) T. Greely addressed in "Human Brain Surrogates Research: The Onrushing Ethical Dilemma" in the January issue of The American Journal of Bioethics. Will the technology reach a stage at which the brain model is perhaps too close a mimic for comfort?

 

"If it looks like a human brain and acts like a human brain, at what point do we have to treat it like a human brain — or a human being?" he asks.

 

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

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DNA Study Adds Branch to North American Mammoth Family Tree

An international team has assembled billions of DNA snippets from molars that three mammoths left in the permafrost of northeastern Siberia, at widely different times. The research reveals an unrecognized ancestor that contributed half of the genome of the mammoth species that came to North America some 1.5 million years ago. The report appears in Nature.

 

The timescale of the study paints a portrait of mammoth evolution, perhaps even capturing a glimmer of speciation. The finding also sets back the clock of ancient DNA analysis; a horse that lived 780,000 to 560,000 years ago holds the record.

 

The three mammoth specimens were excavated in the 1970s from different locations in Siberia, dating from half a million to roughly 1.2 million years ago. They reside at the Geological Institute, Russian Academy of Sciences, in Moscow. The permafrost helped to preserve the DNA.

 

The Land Bridge Where It Happened

 

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

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