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Genetic Linkage

‘Sophie’s Choice’ in the time of coronavirus: Deciding who gets the ventilator

Three otherwise healthy patients go to the emergency department with severe acute respiratory failure. Only one ventilator, required to sustain life until the worst of the coronavirus infection has passed, is available. Who gets the vent?


That's what "A Framework for Rationing Ventilators and Critical Care Beds During the COVID-19 Pandemic," a Viewpoint just published in the Journal of the American Medical Association (JAMA), addresses. Douglas White, MD, MAS, Endowed Chair for Ethics in Critical Care Medicine at the University of Pittsburgh School of Medicine and Bernie Lo, MD, from the University of California, San Francisco, wrote the Viewpoint, which links to a full policy document that's been in the works since 2009. It is being implemented in several states and can easily be adapted to any hospital, Dr. White said in a Webinar on March 27.


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

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Comparing the coronavirus pandemic to past pathogenic threats: HIV, anthrax and Ebola

How does the COVID-19 pandemic compare to other infamous viral infections that have plagued us in modern times? It's a question that's been asked repeatedly in social media circles in recent weeks as people struggle to gain a better understanding of what we are facing.


Recently, I received an answer that was terrifying.


The subject was raised during a March 18 webinar featuring Dr. Anthony Fauci, director of the National Institute of Allergy and Infectious Diseases. He is the nation's top infectious disease expert, who was described recently by the Washington Post as the "grandfatherly captain of the corona­virus crisis".


Dr. Fauci was asked by the editor of the Journal of the American Medical Association to put the virus in historical context. His  response:


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

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Drugs to Treat Novel Coronavirus Part 2: Rx for Restraint

It's impossible to keep up with entries at ClinicalTrials.gov that include the search term "COVID-19."


Last week when I posted Can Existing Drugs Treat COVID-19? From Viagra to Thalidomide to Cough Syrup here at DNA Science, the number of studies was a tad over 100. Right now, it's at 158, a 50% increase. These are just registered studies – being listed doesn't imply approval, but rather intent to carry out an investigation.


On March 18, Dr. Anthony Fauci, who no longer needs introduction, mentioned chloroquine as an example of a drug that might possibly be repurposed against the novel coronavirus, and that several clinical trials are already evaluating its safety and efficacy against the new disease. Dr. Fauci said this at a webinar series that the Journal of the American Medical Association holds regularly for media. The drug has been used for years to treat malaria, rheumatoid arthritis, lupus, and other conditions.


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

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Can Existing Drugs Treat COVID-19? From Viagra to Thalidomide to Cough Syrup

As the number of cases of COVID-19 continues to mount, so do entries at clinicaltrials.gov for potential treatments, reaching into the existing pharmacopeia for repurposing candidates.


Clinical trials for COVID-19 treatments range from 10 people to nearly 600, and most are happening in China. But a caveat: ClinicalTrials.gov is a clearinghouse of proposals, not requiring approval. The entries are from all over the world.


Normally – and these are far from normal times – a clinical trial is optimally designed to assess the safety and efficacy of a new treatment on two groups of people, one taking the drug, the other a placebo. Or, in a crossover design, participants take courses of both treatment and placebo at different times but don't know which is when.


The standard, scientific approach to evaluating drugs takes time. Lots of it. And right now, people are hesitant to sign up for a clinical trial knowing that they face a 50:50 chance of being assigned to a placebo group.


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

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How the “F” word—flu—led to confusion as the coronavirus pandemic unfolded

As the world sought to cope with the growing coronavirus outbreak, there was a common refrain uttered by those failing to grasp the severity of this health crisis: "Oh, it's just a bad flu." In fact, they couldn't have been more wrong. Thinking that a novel virus is exactly like a familiar one is like assuming that a guinea pig is the same as a rat.


The confusion arises from using "flu" to denote the familiar litany of respiratory misery, fever and fatigue. These symptoms are mostly due to the response of the immune system to infection. But the specific illness "influenza" is actually due to infection from an influenza virus (not to be further confused with the tiny bacterium Hemophilus influenzae).


The Director-General of the World Health Organization (WHO), Tedros Adhanom Ghebreyesus, puts it succinctly. "This virus is not SARS, it's not MERS, and it's not influenza. It is a unique virus with unique characteristics."


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

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COVID-19 Vaccine Will Close in on the Spikes

As epidemiologists try to stay ahead of the spread of new coronavirus COVID-19, vaccine developers, like Sanofi and Johnson & Johnson, are focusing on the "spike" proteins that festoon viral surfaces. Following clues in genomes is critical to disrupting the tango of infectivity as viruses meet and merge with our cells.


Vaccine developers look specifically to the molecular landscapes where viruses impinge upon our respiratory and immune system cells. Targeting COVID-19 is especially challenging, because efforts to develop a vaccine against its relative, the SARS coronavirus (SARS-CoV), elicit only partial responses. But those steps are now serving as jumping off points for pharma.


The relationship between viruses and humans can seem like a science fiction plot. The viruses that make us sick may be little more than snippets of genetic material borrowed, long ago, from human genomes. Packaged with their own proteins, viruses return to our bodies, taking over to make more of themselves.


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

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Will scientists ever get ahead of fast-mutating deadly health viruses? Exploring the coronavirus and the genetics of other viral outbreaks

While COVID-19, the novel coronavirus, dominates health news headlines, less exotic viral foes are still around: influenza, the rhinovirus, adenovirus, and respiratory syncytial virus behind the common cold, norovirus outbreaks aboard cruise ships, and always hepatitis and HIV.


What these viruses share is RNA as their genetic material, a nucleic acid less familiar than DNA. Among the RNA viruses are also West Nile, chikungunya, and those behind Ebola and Marburg hemorrhagic fevers, dengue, rabies, and yellow fever.


When science writer David Quammen made the media rounds recently to discuss COVID-19, he skipped the RNA part – "don't worry about that right now." But his excellent book Spillover: Animal Infections and the Next Human Pandemic, which charts the predictions of the current situation starting nearly a decade ago, details the significance of RNA viruses.


RNA is a nucleic acid like its cousin DNA, but has uracil in place of thymine as one of the four nitrogen-containing bases that carry each molecule's encrypted information. RNA's sugar – ribose – has an oxygen atom in a place that DNA's deoxyribose doesn't. DNA is the same in every cell of an individual, whereas shorter and shorter-lived RNA molecules carry out the specific DNA instructions that sculpt different cell types and functions.


The inability of RNA to repair itself, as DNA can, allows mutations to accrue in RNA viruses, enabling them to replicate wantonly and spread explosively. And our bodies help them. New viral particles spew from coughs and sneezes, are propelled in vomit, and ooze from blood and diarrhea, often before our immune systems begin to respond.


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

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A Fruit Fly Love Story: The Making of a Mutant 2020

For Valentine's Day, I offer a fly's eye view of my PhD research on the mutation Antennapedia, which replaces fruit flies' antennae with legs. 


"The Making of a Mutant" initially appeared in this millennium at Scientific American blogs in 2012. But I wrote it in 1978, sneaking it into a manuscript bound for the journal Genetics to see if my mentor, Thom Kaufman, was paying attention. He was. My story was referenced at his retirement party, generations of genetics grad students at Indiana University having read it.


The story started as a joke, "fly porn." But over the years it has morphed into a metaphor for our times. It's a little like this year's Academy Award winning film Parasite being much more than the crazy narrative it at first seems, instead a simmering statement on classism.


Today, Anton O. Pedia's tale of being different is more timely than ever, as the increasing mixing of people of different ancestries hurtles forward against a frightening new backdrop of hatred, division, marginalization, and dehumanization. As the flies find out, the perception of being different is transient. Life is all about context.


The events and facts reported here are all accurate, to the best of my knowledge.




She knew she was different long before her mother had told her the truth. A sensitive youngster, she could tell from the sneering glances of her neighbors that she was, somehow, not quite like them.


To continue reading, go to DNA Science.

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The Giant Squid Genome Holds Surprises

I've been thinking about invertebrates often lately, and so was delighted to learn that the genome of the giant squid has been sequenced. I'll never tire of reading new genome papers.


One of the largest animals known, the giant squid is also one of the most elusive, appearing to us mainly as body parts sporting telltale suckers that have washed ashore. A full grown giant squid can't be comfortably stuffed into an aquarium tank. So most of us know about it from fiction.


Giant Squid in Culture


The giant sea monster of Scandinavian folklore, the Kraken, terrified sailors in vessels along the coastal waters of Norway and Greenland. It was likely a giant squid, as was Homer's tentacled Scylla in The Odyssey. Jules Verne's 20,000 Leagues Under the Sea, written in 1869, famously featured the animal.


More recently, the 2005 film The Squid and the Whale evokes the image of a giant squid battling a sperm whale depicted in a mesmerizing diorama at the American Museum of Natural History. Director Noah Baumbach borrowed the image as a metaphor for the battling parents of his young protagonists.


True squid stories are intriguing too.


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

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New View of the Brink of Cancer May Validate Preventive Mastectomy

Women who have prophylactic mastectomies to stay ahead of a BRCA2 mutation may have made a wise choice, according to findings of a study just published in Science Advances.


Inheriting a BRCA2 mutation brings a 50 to 80 percent lifetime risk of developing breast cancer. But how does that population statistic shake out at a personal level? Is an individual among the 20 to 50 percent who won't develop the cancer? If not, how long can she safely delay surgery until just before the first inklings of cancer arise?


There's no crystal ball that can predict when cancer will begin, but Leif W. Ellisen and colleagues at the Massachusetts General Hospital Cancer Center are coming close. Their clever study detects genetic changes that happen before the effects of the underlying BRCA2 mutation kick in.


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

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