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Genetic Linkage

Human Muscles From Stem Cells: Advance Could Aid Research Into Muscular Dystrophy, Other Diseases

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For the first time, biomedical engineers have grown functioning skeletal muscle from human pluripotent stem cells.

Using stem cells enabled researchers from Duke University to improve upon similar efforts in 2015 that had started with more specialized cells called myoblasts, taken from muscle biopsies. Using true stem cells instead, fashioned from a person’s skin fibroblasts, avoids the painful biopsy and would theoretically up the output of mature muscle cells. The paper appears in the January 9 Nature CommunicationsRead More 
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A Closer Genetic Look at the Quagga, an Extinct Zebra

Like the dodo bird, heath hen, and woolly mammoth, the quagga vanished so recently that glimpsing its evolution is possible, using DNA from museum specimens and breeding modern relatives to select individuals bearing ancestral traits.

Named and described in 1788, a quagga looks like someone took an eraser to the rear end and hind legs of a zebra, brushing away the telltale stripes. Charles Darwin deemed the quagga a separate species, but today Equus quagga quagga is considered an extinct subspecies of the plains zebra. The living five subspecies roam south and eastern Africa, while the other zebra species, mountain and Grevy, live in more limited areas. When I visited Cape Town a few years ago, I was amazed to see zebras standing in ordinary backyards, like deer appear here. Read More 
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Battling Depression with Pharmacogenetics: Genetic Screening Could Eliminate Trial-and-Error Approach to Medications

Finding an antidepressant that works can be an agonizing personal hell of trying one drug after another. Months, even years, may pass without relief, as they did for my father.

A study from 2016 reported that nearly two-thirds of people being treated for major depressive disorder either do not respond to the first drug tried, or suffer unacceptable side effects. Of those that move on to drug #2, three-quarters don’t respond. Each audition lasts at least 4 weeks, with sometimes extended washout periods in between to detox and switch. Read More 
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How Genetic Testing Guided My Breast Cancer Journey – To Eschewing Beef

Two months ago, I joined a club nobody wants to be a member of – the 1 in 8 women who develop breast cancer at some point in their lifetimes. It turned up on a routine mammogram.

I’m happy that it’s okay these days to talk about breast cancer – when my mom first had it in 1988, that wasn’t true. I haven’t thought much yet about marching and holding a sign next October for Breast Cancer Awareness month. I don’t have the strength to hold a sign right now, but I’m trying to help by explaining things on the Facebook groups of “pink sisters” I’ve joined recently. Many of their questions concern genetic testing.  Read More 
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“The Power” – A Dystopian Novel That Turns Misogyny On Its Head, With a Little Help from Genetics

I was thrilled to see Naomi Alderman’s dystopian masterpiece, The Power," top Barack Obama’s list of his favorite books of 2017. OK, the #1 is because the list is alphabetical – but still.

Tables Turned

The multi-layered tale flips misogynistic practices culled from history – from killing female newborns, to rampant rape, to the merely maddening restrictions on driving, education, and working. One example of the turnaround: “curbing,” the ritualistic burning of selected nerve endings in the penis as a boy nears puberty. Read More 
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DNA Testing Kits as Holiday Gifts Can Bring Surprises

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Lately people have been sending me their direct-to-consumer (DTC) genetic testing results for help with interpretation. Although companies like 23andMe and ancestry.com do a pretty decent job of explaining findings, people not familiar with genetics might be confused. And they can be so upset, or scared of the science, that they forget that human behavior lies behind some disturbing information.

So it was that Lisa G., not her real name, emailed me recently, asking about the likelihood that a stranger claiming to be her half-brother really was. He’d gotten the idea from a 23andMe test. So as ads for DTC DNA tests ramp up as the holidays approach, I thought I’d relate this simple example of the feelings that findings can evoke. Read More 
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An Argument Against Gene Drives to Extinguish New Zealand Mammals: Life Finds a Way

The mammals of New Zealand have long posed a threat to native species. The Predator Free 2050 program is an effort to rid the island of these invaders – including using the tools of CRISPR-based genome editing to create a gene drive to jumpstart extinctions.

It’s a very bad idea. Read More 
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The Peaceable Genomes of Pumpkins

“For pottage and puddings and custards and pies
Our pumpkins and parsnips are common supplies,
We have pumpkins at morning and pumpkins at noon,
If it were not for pumpkins we should be undoon."


Pilgrim verse, circa 1633

The pumpkin became a Thanksgiving staple at the second celebration, after the immigrants to the New World had learned about its nutritional value and versatility from the original Americans.  Read More 
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The Biology of “Stranger Things’’

The Netflix series Stranger Things, although terrific, might ditch the clichéd doctor-scientist in charge and get themselves a developmental biologist, stat. The disseminated beast that is invading, sliming, and gobbling the residents of a small Indiana town reminds me of one of my favorite organisms, the cellular slime mold. Read More 
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Gene Therapy on Stem Cells Replaces a Boy’s Epidermis

Genetically corrected stem cells replaced a boy's skin.
A 7-year-old boy whose outer skin layer was nearly gone due to a genetic disease has had it replaced, using his own genetically-modified stem cells, report researchers from Germany, Austria, and Italy in Nature.

He has junctional epidermolysis bullosa (JEB). The thin tissue layer separating the epidermis from the dermis below is extremely fragile and easily damaged, resulting in blistering, peeling, and fraying of the skin, leaving wounds that can be deadly and raising the risk of skin cancer. The researchers replaced the boy’s skin with grafts to his limbs and then the back of his body, followed by closing some of the gaps. In essence, they engineered and knit him a new epidermis – with a lot of help from the boy’s own capacity to heal. Read More 
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