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Genetic Linkage

Beaver Feces Inspire a Way to Convert Type A to Type O Human Blood

My writing assignments for Medscape Medical News tend to be formulaic: summarize the findings of an interesting new paper, enabling busy health care professionals to stay on top of the literature. I knew immediately the importance of an assignment from a few weeks ago – a team from the University of British Columbia had found a way to convert type A blood to type O. The report, in Nature Microbiology, details how they commandeered a pair of enzymes from a human gut bacterium.


That's huge.


Type O blood is the "universal donor." An individual of any ABO blood type can receive it without suffering a rejection reaction, until supplies of the matched type become available. That's because the surfaces of red blood cells (RBCs) that are type O lack certain glycoprotein molecules that festoon cells of types A, B, or AB.


Because more people have type O blood (45%), finding a way to make more of it could help address the ongoing shortage of human blood. The American Red Cross recently began offering gift cards to entice type O donors, warning that unless supplies extend from 2-days to 5-days, some emergency departments will be without blood and some types of surgeries delayed.


I guessed that the researchers had found some way to denude types A, B, or AB RBCs – shake them, zap them, bathe them in enzymes – but I didn't imagine that beaver dams would be an inspiration. My Medscape article had only a sentence on the beaver connection, so I thought I'd elaborate here at DNA Science, where inquiring minds gravitate to the weird.



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

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How microbiome research promises to solve blood shortages, halt food allergies and give us better skin

Is your body wash gentle on your microbiome? asks the voiceover in a Dove ad.


A half dozen befuddled young women then attempt the Herculean task of repeating the word "microbiome." Finally, one says, "I actually don't even know what that is!"


MotherDirt Body Wash has "been screened and tested using our biome-friendly platform for compatibility with the skin's natural biome," reads the label. Sounds good! But a closer look reveals it's liquid soap with a pinch of salt, a dash of sweet almond oil, citric acid, and, of course (?), some hydrolyzed pea protein.


Popularity of "microbiome"-as-buzzword must have presented an advertising challenge for a body wash, which must remove dirt but not unsettle the microbial residents of the human epidermis. And so the products promise to maintain the skin microbiome, as if it's going to spontaneously evaporate unless one forks over $30 for a bottle of soap.


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



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Pot smokers with this genetic variant could face addiction risks similar to those who smoke cigarettes

Back in the 1960s and 1970s, for those of us who can remember them, marijuana was widely regarded as not being addictive, compared to other drugs and of course to cigarettes. We smoked often just because we liked it and it was part of our social structure. But there may have been more to it.


Today, with decriminalization of cannabis spreading across the country, researchers are trying to learn more about the ways our brains are affected by the plant. And one of the things we're finding is that pot may be more addictive than we thought.  A recent study in Nature Neuroscience suggests that for people with a certain genetic variant, pot may be addictive in much the same way as cigarettes.


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




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Did you get a DNA ancestry kit for Father’s Day? Here are some things to consider before spitting in that vial

Ads for DNA testing kits on social media and TV seem to usher in every holiday. The pitches for Father's Day dropped right after Mother's Day:


$50 off at 23andMe, plus free gift wrap! Offer ends June 17.


"Celebrate Dad's Genes" Father's Day Sale with 25 percent off at Family Tree DNA," offer also expiring June 17.


"Give the world's greatest Dad our best DNA experience yet. $40 off!" shouts AncestryDNA. "Now with greater details and new features, Dad can get a richer view of his story and discover what he's made of. Give Dad the Gift of Discovery!"



If my father were alive to open an enticing shiny package and "discover what he's made of" by sending in a spit sample, he'd find that it's not what I am made of. He'd discover that, biologically speaking, he isn't my father at all. But he raised me, so of course he was.


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


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Do China’s controversial CRISPR babies illustrate the need for an ‘undo button’?

The editing of the genomes of twin girls announced via YouTube in November 2018 using CRISPR/Cas9 set off alarm bells for the premature use of the controversial technology. But the protests may have been misplaced: it wasn't just the germline gene editing, but choice of the delivered gene – CCR5 – that might introduce risk. A new report in Nature Medicine indicates that the engineered mutation is associated with increased mortality.



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

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When a Rare Mutation Causes a Rare Disease: Jacob’s Story

For some parents, a physician's advice to "just take him home and love him," presumably letting nature take it's most likely course, is just not acceptable. This blog has championed many such parents, who serve as catalysts for others.


New to rare disease territory is Orah Lasko, whose toddler Jacob not only has an exceedingly rare disease, but a highly unusual mutation behind it. With all of the media coverage of the high costs of new biotech-based treatments – gene therapy, targeted cancer drugs, monoclonal antibody-based drugs, antisense oligonucleotides – having such a double dose of rarity could be quite an obstacle.


But that's not stopping Orah. Nor are the words of a neurologist who advised her to stop pursuing treatments.


The Diagnostic Odyssey


Orah Lasko's pregnancy, her third, had been uneventful, with normal findings on the standard prenatal tests. Jacob seemed okay when he was born in September 2017, with minor feeding issues that went away. His small genitals didn't set off any alarm bells.


But as the months went on, other things appeared. Or didn't.



To continue reading, go to my blog, DNA Science.



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