Ricki Lewis

Members of a three-generation family in France who suffer from widespread infections and fragile skin, joints, bones, and blood vessels share an underlying and unexpected immune system glitch, according to a new report in Science Immunology.

The grandmother died of septic shock at age 76. She had the same collection of problems that plague her 45-year-old daughter, and her 19-year-old granddaughter. They have two syndromes that aren't known to occur together:

"Chronic mucocutaneous candidiasis" brings persistent infections with the yeast Candida albicans, in the vagina, skin folds, mouth (thrush), and other mucosal linings. All three women also suffer UTIs, ear-nose-and-throat infections, and bacterial skin infections.

Connective tissue disorders similar to Ehlers-Danlos syndrome include hypermobile joints; soft, velvety, super-stretchy skin; palm and sole blisters; stretch marks; slow wound healing; poor digestion; osteoporosis; and, most debilitating, chronic widespread pain. Abnormal connective tissue is dangerous, because blood vessels and organs such as the uterus and intestines can burst.

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

It's that time of year again — an avalanche of ads urging us to drool into tubes so companies can spit back verdicts on our pasts, presents, and futures. Judging from my emails, those unceasing ads have inspired many questions about genetics in general.

Among the emails that pinged in recently:

• A pediatrician sent lists of the gene variants found in her own in vitro-fertilized embryos. Which should she implant?
• How reliable are pharmacogenetic tests to select the most effective anti-depressant?
• "Have you seen anything on the horizon for a gene therapy for a chromosomal unbalanced translocation?" (No. A gene and a chromosome are different entities and targets.)
• Would I write about a man's invention of a $100 genome sequencer? Review a book? Lend my image and name to a DNA-data-interpreting company? Consider a job as a gene variant curator?

So I started a list of my e-mails, with apologies to Hillary, and extracted three recurring themes: transgender identity, when a human life begins, and by far the largest group: interpreting DNA test results, either consumer or clinical.

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

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.

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.

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.

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.

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.

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.

"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.

Despite the rising popularity of plant-based burgers like the Impossible and Beyond, plenty of people still like the real deal.

Many studies have linked eating red meat (beef, pork, and lamb) to atherosclerosis, colorectal cancer, other ills, and shortened life. That's why experts quickly challenged conclusions of a new study that downplayed the danger. I stopped eating red meat two years ago.

Now researchers have zeroed in on a single type of carbohydrate on the surfaces of the cells of red meat that might trigger the chronic inflammation that lies behind the associated illnesses. And they've found an intriguing way to remove it.

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