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Genetic Linkage

Gene Therapy for the "Butterfly Children"

Videos of the "butterfly children” are difficult to watch. The name comes from the delicate skin of people who have epidermolysis bullosa, which is reminiscent of the fragility of a butterfly’s wings. The slightest touch evokes painful blisters and peeling skin.

“I was born with the worst disease you never heard of,” says Rafi Lily in one video. “I know mom doesn’t want to hurt me, but taking off bandages is hard. It feels like fire is beating me up and sharp dogs teeth are digging into me. But we’ll have to do it all over tomorrow and the next day and every day for the rest of my life.” Read More 
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Incurable Arthritic Knees? Gene Therapy Offers New Hope

Imagine a single injection into the knee vanquishing painful arthritis – forever. Gene therapies aimed at two molecular targets will likely make that possible, with one, Invossa, already approved in South Korea.

“Arthritis” is a catch-all term for more than 100 varieties of joint inflammation. In the US, more than 30 million people have osteoarthritis (OA). The knee is particularly vulnerable, with arthritis there plaguing 10% of men and 13% of women aged 60 years or older.

Four events contribute to arthritis: inflammation, an increase in the volume of synovial fluid that fills joints, breakdown of the joint, and underlying bone damage.  Read More 
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NBC News' Richard Engel's Son Diagnosed With Rett Syndrome. Why That's Such a Rarity

The Today Show recently reported the sad story of Henry Engel—the toddler son of correspondent Richard Engel and his wife Mary Forrest who was diagnosed a few months ago with Rett syndrome.

The segment mentioned, in passing, that it’s rare for a boy to have this genetic condition, but never followed up. A report in People provides a bit more explanation, but still not enough. Read More 
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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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