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Genetic Linkage

Omicron Evolves and the Covidization of Scientific Publishing

Just as we thought Omicron was rolling across the US and into oblivion, a new "subvariant" has arrived and is, again, taking over. At the same time Moderna is announcing dosing of the first participant in its phase 2 study of an Omicron-specific booster. But Omicron's evolution wasn't unexpected – the World Health Organization's recent update cites four lineages of Omicron, dubbed BA.1 through BA.4.


"So it goes," to quote Kurt Vonnegut in Slaughterhouse Five. But that statement was in response to death among the Tralfamadorians – not the robust activity of a tiny virus.


It seems to me that the continual categorization of SARS-CoV-2 reflects the human urge to group, categorize, and name things to help us understand them. I think the situation is eventually going to dissolve into a continuum of genetic flux as the tango of mutation and selection continues. That's what nucleic acids do.


Since it still new days for Omicron 2.0, here's a snapshot:




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

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Will parental vaccine hesitancy retard the embrace of life-saving newborn genetic screening and emerging gene therapy revolution?

In these days of the never-ending pandemic, other health problems continue to take a backseat. That's especially true for the 7,000 or so rare diseases that collectively affect only one in ten people, while the number of COVID fatalities in the US nears the million mark. 


Although some clinical trials for rare disease treatments have stalled, they'll resume once COVID settles into some version of endemicity. More than 60 cell and gene therapy FDA approvals are expected by 2030, according to the Massachusetts Institute of Technology's New Drug Delivery Paradigms Initiative. They range from RNA-based drugs to gene therapies to CRISPR fixes.


Rare diseases tend to strike the youngest. Clinicaltrials.gov hints at what's to come.


CRISPR is tackling sickle cell disease and thalassemia, while antisense technology is being tried for Duchenne muscular dystrophy. Searching for "gene therapy" brings up 5000 hits for this older approach, many targeting childhood diseases.


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

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DNA in Strange Places: Hippo Poop, Zoo Air, and Cave Dirt

Many years ago, a dear friend took me to the Detroit zoo to see the Hippoquarium. Much to my delight, the resident hippo positioned her rear to the glass of the enclosure and let loose, her whirring tail distributing the intestinal contents like blowing on an open milkweed pod.


A few years later I saw the same demonstration at the Tampa zoo, a hippo's whirligig-of-a-tail in action.


Hippo Microbiomes


Recently, researchers from the US and Kenya described in Scientific Reports their investigation of the ejection of hippo feces into the pools of the Serengeti's Mara River. A more natural environs than a zoo, the river is home to more than 4,000 hippos wallowing in some 170 hippo pools in the Kenyan part of the territory.


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

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Pandemic Predictions Take a Turn Towards the Positive – Finally

An end may be in sight. For the first time since the pandemic began, I listened to a press briefing from medical experts that did not give me nightmares.


It was December 11, 2022, the weekly zoom from the Massachusetts Consortium on Pathogen Readiness (MassCPR). The group of eloquent experts formed at the dawn of the pandemic. They've held sporadic briefings for journalists over these many months, ramping up to weekly as Omicron loomed in early December.


From JAMA to MassCPR


At the beginning, I was a fan of the online Conversations with Howard Bauchner, who was then editor-in-chief of the Journal of the American Medical Association. Dr. Bauchner's laid-back manner got the superstars of the pandemic – from Anthony Fauci to Rochelle Walensky to Paul Offit – to relax, in an environment far from Clorox-pitching presidents and the like. Those were the days when the experts talked of the goal of herd immunity. I suspect none of them imagined that so many people would shun life-saving vaccines and even make the decision political, endangering us all and providing fertile ground for Omicron and the other variants to evolve, emerge, and threaten us in new ways. I know it blindsided me.



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

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Please Help My Liberian “Son” Achieve his Dream as an Infectious Disease Physician

For many years I've ended editions of my human genetics textbook with a request for students to email me to share their thoughts on what they'd learned. Only one student has ever contacted me.


Emmanuel Zoboi Gokpolu was in high school in Monrovia, Liberia, when he emailed me at the end of his genetics course, in 2007.


My husband Larry and I quickly developed a friendship with Eman; he calls us Mom and Dad. We sent him a package of Obama tee shirts, which he distributed to his family. Free people of color from the US founded an independent Liberia in 1847, so there was a connection.


I recognized something special in Emmanuel right away, a love of biology and a compelling interest in health care and helping people. Larry and I supported him through college and then we encouraged him to go to medical school – fulfilling a dream of mine (bad chemistry grades kept me from applying).


Med school in Liberia was going well, until Ebola struck in 2014. With half the instructors dying and classes halted, Eman led medical students in carrying out public health measures. He organized a group called "Determined Youth for Progress" to sensitize rural communities to Ebola awareness and prevention measures, sent text alerts, and did contact tracing.


He told his story during the Ebola crisis here at DNA Science, in Eman's Emails from Liberia: Through September and then Eman Reports from Ebola Ground Zero. During that time, instead of paying his tuition, we sent support for gloves, detergent, bleach, and long sleeve shirts to keep him and his family as safe as possible.


Reading over that first post about Eman now gives me chills, in the context of COVID. Eman wrote on August 6, 2014:


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

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