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Genetic Linkage

Camel Milk and Autism: Connecting the Genetic Dots

After reading Christina Adams's new book Camel Crazy: A Quest for Miracles in the Mysterious World of Camels (New World Library), I may have a new favorite animal (sorry, cats and hippos).

 

Most of us know camels as curiosities at zoos. As beasts of burden highly adapted to hot and dry climates, they've served the trade routes that helped build civilizations, and may indeed flourish in our increasingly hot and dry world. We value their hide, meat, and especially their milk.

 

Camels are unusual, biologically speaking. And that may be why their milk can alleviate some aspects of autism.

 

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

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FDA Scrutinizes Fecal Transplants

On Monday November 5, officials at the FDA listened for three hours to arguments for and against "fecal microbiota transplants" – mostly for. Speakers reported that the procedure has saved thousands of lives.

 

The technique of "FMT" is highly effective in treating infection with Clostridioides difficile ("C diff"). This infection is usually hospital-acquired, causes life-threatening diarrhea, and tends to recur. It is terrifying.

 

FMT introduces a healthy donor's gut microbiome (the population of microbes in the intestines) and is in clinical trials for a variety of ills. But microbiomes are highly individualized entities, and so variations on the fecal transplant theme, in terms of what's actually being delivered, haven't been well documented.

 

A Death

 

The FDA meeting came, coincidentally, just days after The New England Journal of Medicine (NEJM) published a report about two patients who'd contracted rare, antibiotic-resistant E. coli bloodstream infections from fecal transplants. One patient responded after he switched to the appropriate antibiotic; the other died of pneumonia and sepsis within days.

 

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

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When blood relatives hook up: Is ‘Genetic Sexual Attraction’ really a thing?

In the first episode of the Australian TV series Sisters (recently reborn as Almost Family on Fox), Julia Bechly has just learned that her ailing father Julius, a fertility specialist whom she's been caring for, is nearing his end.

 

She needs a break, so she swipes right, trades her jeans for a miniskirt, slaps on make-up, and heads out, meeting hot Sam at a bar. She practically devours him.

 

The next day, a news story breaks that 20-something years ago, Julius used his own sperm to impregnate his infertility patients. Dear old dad, with a weak smirk, confirms from his deathbed to Julia that he indeed secretly shared his seed.

 

Julia, panicked, riffles through her dad's records and stares at his bulletin board of babies in a new way. Why not throw a "family gathering" and invite all 100 or so of her biological half-siblings and hand out DNA kits to those who haven't already tested?

 

But at the gathering, through the excited throngs, Julia sees her recent hookup enter the ballroom, with a woman. They approach.

 

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

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Viewpoint: Netflix’s new horror movie ‘Eli’ is a fright. But why did they have to ‘tarnish gene therapy’?

he new horror flick on Netflix, Eli, released just in time for Halloween, borrows from The Exorcist and Rosemary's Baby, with touches of The Shining. And it all takes place in what looks like Downton Abbey with the cleaning staff gone.

 

"Eli" works; it's scary. But the set-up using gene therapy gone awry is unfortunate, superfluous, and even offensive. (Beware, spoilers ahead)

 

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

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Ancestry tests underreport African genetic diversity, limiting benefits of precision medicine for blacks. Here’s how we can change that.

We know that modern humans emerged about 200,000 years ago in Africa. So it's fair to say that African genomes are ancestral to us all – descendants of those who stayed in Africa as well as of those who left.

 

And yet people of African ancestry are astonishingly underrepresented in the genetic reference panels used to inform the "ethnicity estimates" that DNA testing companies return to customers who send in spit samples, hoping to trace their origins to something specific enough to compare to documents and family lore. A wider representation in the reference panels would also aid the interpretation of genetic information in developing new precision medical treatments.

 

New hope for rectifying this imbalance, in the form of the sequencing of 426 African genomes, was announced at the recent 2019 American Society of Human Genetics annual meeting in Houston. The talk's title encapsulated the vast scope of the work: "High-depth genome sequencing in diverse African populations reveals the impact of ancestral migration, cultural demography, and infectious disease on the human genome."

 

Right now, the colorful pie charts and polygons that depict customers' geographic origins skew heavily European.

 

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

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When the Target Isn’t Really the Target: One Way Cancer Drugs Fall Out of Clinical Trials

Ninety-seven percent of potential new cancer drugs never make it to market, dropping out of clinical trials when they don't meet measures of safety or efficacy.

 

"Why that is, we don't really know. But I think that this extremely high failure rate suggests that there are some fundamental issues in how new drug targets are studied and how new drugs are characterized," said molecular biologist Jason Sheltzer, PhD, an Independent Fellow at the Cold Spring Harbor Laboratory on Long Island, NY.

 

He decided to investigate, and uncovered the potential power of publishing negative evidence.

 

CRISPR Improves Precision

 

The team reports in Science Translational Medicine on using the gene editing tool CRISPR-Cas9 to test whether 10 experimental cancer drugs work exactly how their developers predicted they would. And they found a tunnel vision in the way that drugs are targeted that might explain why certain patients do not respond as hoped.

 

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

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Breast Cancer Genetic Testing for All Women?

"I have no family history of breast cancer," says the woman in a public service announcement stressing the importance of mammograms for all women.

 

"No one in my family had breast cancer. Not one. But I start chemo next week," says the woman in another PSA.

 

Unfortunately, people paying only partial attention, as we tend to do these days, might come away with the earworm "family history – cancer," and perpetuate the misunderstanding that breast cancer only happens to people with a family history of it. That's simply not true, but the health care community apparently hasn't caught up.

 

A recently-published study in JAMA Oncology reports the number of lives saved among a large group of women diagnosed with breast cancer who had testing for three genetic risk (susceptibility) genes, even if they have no affected relatives. Might testing all women – not just those who already have breast cancer or have relatives with it – save lives as well? I think so.

 

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

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