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Genetic Linkage

How Breast Cancer Reunited Six High School Friends

Four of the six of us from my high school inner circle have had breast cancer over the past two years. And that has me wondering.


Did a shared environmental exposure, stamped onto our shared Ashkenazi Jewish heritage, during that critical period in our lives set the stage for cancer decades later? The timing and cancer subtypes suggest to me, the biologist in the group, that the answer could be yes. But I'm flummoxed.


An Illustrious High School


The long walk to James Madison High School began every weekday morning with me. I'd pick up my neighbor Amy, then Randy two blocks over, then across the street and a few steps to Wendy. We'd turn right onto Quentin Road to meet Tobie, then dip into East 18th Street, to get Bess in her rambling Victorian that was to the rest of us, from smaller homes and apartments, a mansion. It was the epicenter of the best parties.


We began tenth grade at Madison shortly after Woodstock and graduated as the class of 1972. Famous alumni include Carole King, Bernie Sanders, Chuck Schumer, Ruth Bader Ginsburg, Judge Judy Scheindlin, Martin Landau, and Chris Rock (See "How One 'Ordinary' Brooklyn High School Produced Six Nobel Laureates, a Supreme Court Justice, and Three Senators." )


To read more, go to DNA Science, where this post first appeared. 

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Will New Knowledge of Gender Identity Genomics Counter Discrimination?

If legislation being developed by State Rep. Ginny Ehrhart, (R-Powder Springs, Georgia) goes forward, a physician who provides surgery or hormones to assist a transgender individual age 18 or under in transitioning will be committing a felony. This treatment addresses gender dysphoria, which is the significant distress or inability to function when the gender assigned at birth (natal male or female) doesn't match the gender that a person feels.


Representative Ehrhart's press release introducing the "Vulnerable Child Protection Act" emphasizes that the proposed measures do not apply to adults. Her words are harsh: "This is about children who are being abused by adults. The sterilization and castration of children has no place in a civilized society." She got the idea, according to media reports, from the case in Texas of a 7-year-old whose mother supports the child's claiming to be female and the father opposes it. Sen. Ted Cruz called the child "a pawn in a left-wing political agenda." Because gender dysphoria isn't even diagnosed until puberty, the mutilation scenario seems an exaggeration.


The practice that Rep. Ehrhart refers to is more eloquently and accurately known as "gender affirming therapy," and includes hormone suppression that is already used to treat other conditions. At the Texas child's age, it might just mean allowing her to wear what she wants as a team of medical specialists evaluates the case. Several health organizations have published guidelines on therapy; here's one.

If the language in the press release is an indication of the coming legislation, then the rhetoric implies that gender dysphoria and even transgender identity do not exist.


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

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‘CRISPR this, CRISPR that’: Is our fascination with the popular gene-editing tool distracting us from the potential of gene-silencing RNAi technology?

CRISPR, it seems, is everywhere.


Google "crisper" and "Did you mean crispr?" shoots back.


The film Rampage brought a giant, CRISPRed wolf, ape and gator. In real life a year ago, renegade researcher He Jiankui announced CRISPRing human twins at fertilization and then vanished, an unpublished manuscript just now surfacing at MIT Tech Review. He's now in jail.


CRISPR is the subject of Netflix's Unnatural Selection and the upcoming documentary Human Nature.


CRISPR this, CRISPR that.


But drugs based on CRISPR are just entering clinical trials. Nevertheless, NPR breathlessly announces its "exclusive access" to the story of Victoria Gray, a woman receiving cells CRISPRed outside her body and then infused to treat her sickle cell disease. One patient, at the start of a trial.


Yet on November 20, the FDA approved the second drug based on RNA interference (RNAi) technology. I didn't see much mainstream media coverage.


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

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FDA Approvals in 2019 Reflect Eclectic Ways to Treat Genetic Disease

It was a good year for new treatments for genetic diseases! Of the 44 FDA approvals of new drugs, 8 were for 6 single-gene diseases: DMD, beta thalassemia, cystic fibrosis, a form of amyloidosis, and two each for sickle cell disease and porphyria.


The eight approvals showcase the diverse therapeutic strategies that are finally leaping from clinical trial to clinical reality. That's important. DNA, RNA, and protein-based treatments face an especially high bar because of the perceived permanence of a correction at these levels  of genetic information.


Slowing of disease progression or improvement in one or two symptoms are signs of success, but it might take time for some molecular corrections to translate into fading symptoms. That's why the multi-pronged strategies are critical.


If a gene therapy isn't leading to rapid or obvious improvement in a child with a brain or muscle disease, then perhaps RNAi, antisense therapy, or enzyme replacement therapy will. Better yet, instead of testing the technologies in tandem, do it in parallel.


I hope that this past year's progress isn't lost in the hype over gene editing in general, and CRISPR in particular. The media sometimes paints an unrealistic portrait of looming miracle cures and breakthroughs, which I analyzed last week here. New medical treatments are based on science, and that takes time – typically, three decades.


Here's a look at a handful of new treatments for genetic diseases approved in 2019, and how they work.


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

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5,700-Year-Old Lola, Her Genome Sequenced from Gum, Joins Other Named Forebears

About 5,700 years ago in southern Denmark, a woman enjoyed a meal of hazelnuts and duck, then chewed gum made from the boiled, tar-like gunk of birch bark. Pieces of DNA extracted from the ancient gum and overlapped to reconstruct her genome reveal that she had dark brown hair, dark skin, and blue eyes.


Her discoverers named her Lola, perhaps in honor of the eponymous Kinks song: "I asked her her name and in a dark brown voice she said, 'Lola.'"


Researchers from the University of Denmark and elsewhere published the findings in Nature Communications


Lola lived on the island of Lolland, east of Rødbyhavn in southern Denmark, where today an 11-mile-long tunnel is being dug to link to the German island of Fehrmarn. Archaeologists from the Museum Lolland-Falster are at the site, the largest from the Stone Age in Denmark. It's called Syltholm, and Lola, technically, the "syltholm individual."


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

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Family with Two Rare Syndromes Reveals Immunity Glitch


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.

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Does the ‘genetics revolution’ unsettle you? Here is a guide, and reasons to be hopeful

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.

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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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