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Genetic Linkage

How Bandersnatch Mirrors a Cancer Journey

A few minutes into watching the compelling new Black Mirror episode Bandersnatch, in which the viewer chooses the story path, I realized that the experience echoes a journey with breast cancer.

Black Mirror, the brainchild of Charlie Brooker, debuted in the UK in 2011 and migrated to Netflix in 2016. The series imagines the negative effects of technology with stunning prescience, each episode a peek at a different world, with just enough familiarity to unleash a wave of unease. Wrote Mr. Brooker in the new book “Inside Black Mirror,” “I’ve already repeatedly experienced what it’s like when Black Mirror stories slowly manifest themselves in the real world. Not sure that’s going to be much comfort when I’m being chased across an irradiated landscape by an autonomous robot bum-on-legs with the Facebook logo etched on its perineum and a Make America Great Again hat perched on top, but you can’t have everything.”

Black Mirror Takes the Twilight Zone to a Brave New Level

I’ve been hooked since the first episode, which was so disturbing some people never tuned in again. I’ve watched the award-winning San Junipero episode many times, always seeing more. It is genius.

This year, the special Bandersnatch episode debuted at the same time as the annual New Year’s marathon of the Twilight Zone, the inspiration for the series. Beth Elderkin summarized the plot in Gizmodo:

To continue reading go to my blog DNA Science at Public Library of Science, where this article first appeared.
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A Proposed DNA Data Protection Act? The Cat’s Out of the Bag

A team of biologists, policy analysts, and legal experts from the University of Queensland call for a new Genetic Data Protection Act in an article just published in Genetics in Medicine.

A new law is needed now, the researchers argue, because of the increasing difficulty of keeping the threads of DNA use separate. “What happens to our genetic data in one realm, such as forensics, is highly likely to affect how society trusts the use of genetic data in medicine. The speed of these developments has surprised many and demands a policy response to protect trust in medical genetics,” they write.

A data protection act is a great idea, but isn’t it a little late? The collision between genetic privacy and the consumer testing data dump that forensics is tapping into is already here. And it may detonate when the millions of DNA kits sitting under Christmas trees right now are translated into information. Read More 

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Genome of Galapagos Gentle Giant Lonesome George Leaves Clues to Longevity

Lonesome George

I have a special fondness for tortoises.

Many years ago I bought a baby Sulcata tortoise at a reptile show. Unbeknownst to me, as I brought the Oreo-sized Speedy home in a McDonald’s burger container, she could live 100+ years.

Speedy grew. Fast. For amusement, she took to moving the furniture around at night. The weekly bowel movement took me several hours to clean up and the culprit hated the bathtub. She loved being outdoors in the summer, a reptilian lawn mower, but come winter, she’d grow depressed stuck inside, stalling herself in a corner of my office like a misplaced file box.

I despaired. Then googling led to articles disparaging idiot northeasterners who take in the likes of iguanas and giant tortoises, then have to deal with the inevitable growth.

I had to rehome my beloved Speedy.

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

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Viewpoint: Putting CRISPR babies in context—learning from the past instead of panicking in the present

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The birth announcement for the first human babies conceived using gene editing, to prevent an infection, came via YouTube on November 25.

In the words of researcher He Jiankui, of Southern University of Science and Technology in Shenzhen:

Two Chinese girls, who we’ll call Lulu and Nana to protect their privacy, were born healthy a few weeks ago. Their mother Grace started her pregnancy by regular IVF with one difference: right after sending her husband’s sperm into her eggs, an embryologist also sent in CRISPR/Cas9 protein and instructions to perform a gene surgery intended to protect the girls from future HIV infection. The surgery reproduces a natural genetic variation shared by more than 100 million people of primarily European origin that confers strong resistance to initial HIV-1 infection and disease progression.

Dr. He went on to briefly explain the safety measures taken: genome sequencing before the early embyros implanted in the uterus, during the pregnancy, and after birth. “These data indicate the girls’ genomes were changed as intended by the gene surgery, but no off-target editing or large deletions occurred,” he concluded, saying his team would publish the findings soon.

To continue reading go to Genetic Literacy Project, where this article first appeared. Read More 

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A Common Ancestry Metric Is Based On a Century-Old Discovery by a 19-Year-Old: CentiMorgans Explained

I’ve been immersed in genetic genealogy, following up on a recent contact from a relative I didn’t know existed. While trying to imagine scenarios that might explain how we came to be connected, I contacted Ancestry.com for assistance in seeing actual data. When I found the obvious drop-down menus next to my matches on the website, I was astounded to recognize the unit used to assess the closeness of relationships – a centiMorgan.

I’m sure that’s Greek to most people. But to a former Drosophila (fruit fly) geneticist like me, “centiMorgan” (cM) brought an instant meaning: distance along a chromosome.

Invention of the centiMorgan is one of my favorite tales from the history of genetics. It provided the very first genetic map, and inspired the variations on the theme that were to come, including full genome sequencing.

The intuition that has sent millions of people googling centiMorgans, with more to come after all those DNA kits are opened and spat into for Christmas, goes back to a sleep-deprived 19-year-old with a fantastically brilliant idea, 105 years ago.

To continue reading go to DNA Science, my blog for Public Library of Science, where this article first appeared. Read More 
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Hiding in Plain Sight: Exploring Parkinson’s Link to the Appendix

Lurking in the layers of the human appendix lie deposits of alpha-synuclein, a protein prone to gumminess, like sticky rice. Known mostly for its clumping in the brains of people with Parkinson’s disease, alpha-synuclein aggregates found in the appendixes of healthy people made headlines a few weeks ago.

Isn’t the appendix fairly useless, even dangerous when inflamed? Is it also a gateway to a brain disease?

Actually, a link between the Parkinson’s protein and the appendix has been known for a few years. Now, new experiments reported in Science Translational Medicine confirm the connection and suggest a protective role for appendectomy. But rather than advising people to shed their appendixes, the researchers see their findings as opening up a new target for drug discovery for Parkinson’s.

To continue reading go to Genetic Literacy Project, where this article first appeared. Read More 

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The Coffee-Genes Story Brews Discontent on Thanksgiving

A few weeks ago a report claiming a love for coffee is “in the genes” fleetingly flashed across screens. I thought I’d let the grounds settle and then take a closer look, fitting with my writing about food every Thanksgiving (pumpkins last year, yo-yo dieting in 2016, and turkeys in 2015).

I keep a mental list of dumb things linked to genes.

Geno-Everything

“Get the giggles easily? Blame your genes: Genetic variant enhances how people react to funny – and sad – situations,” reported the Daily Mail, echoing a paper published in the journal Emotion. It refers to the long and short variants (alleles) of the 5-HTTLPR gene, which encodes the serotonin transporter. Variants of that gene are connected to whether participants laughed at Gary Larsen cartoons or not.

An article in The Telegraph, “It’s All In Your Genes: How DNA Explains Your Sense of Humor, Sleep Patterns, and Phobias,” explored arachnophobia, speculating about a genetic advantage handed down from an ancient aversion to spiders. The article links to another Telegraph article about a genetic connection to shopping style.

Soon I found myself sucked into a quagmire of British newspapers parroting each other, but not the technical reports. They evoke “in your genes” to cover quite a technological territory, including twin studies, comparing behaviors to having certain gene variants, to genome-wide association studies, to spinning stories that just make sense, like a fear of scorpions or not eating toxic bugs.

To continue reading go to DNA Science, my blog for Public Library of Science, where this article first appeared.  Read More 
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How Freddie Mercury Got His Voice: It Wasn’t His Teeth

Shortly into the film Bohemian Rhapsody, Freddie Mercury attributes his magnificent voice to four extra incisors: “extra teeth equals extra range.”

The dental endowment had gradually pushed his front teeth forward, causing a great deal of teasing (“Bucky”) when Freddie was a boy and teen, then known as Farrokh Bulsara. He hid them behind his hand and, later on, a mustache. But it never squelched his singing.

The Internet is overflowing with accounts of the transplendent Rami Malek preparing for his role as the four-octave frontman by slipping on a pair of customized prosthetic upper teeth to practice speaking and singing.

While Freddie’s extra teeth were unlikely due to a specific genetic disorder, at least one group of researchers has suggested an alternate biological explanation.

To continue reading go to Genetic Literacy Project, where this article first appeared.  Read More 
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If A Genetics Textbook Author Was Treated Like a Political Insta-Author

Every week, it seems, yet another politician, or someone in a politician’s orbit, releases a book and lights up the media. Against a backdrop of ordinary people recording nearly everything, celebrities and politicians become insta-authors with the big publishers, raking in the huge advances.

Writing these tomes typically takes a few months, maybe a year. How can someone with a full time job do this? Does a politician wake up one day an accomplished writer, like me overnight becoming a proctologist, a plumber, or a porn star?

Political insta-authors often have help.

To continue reading go to my DNA Science blog, where this article first appeared. Read More 
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The Genomic Scars of Anti-Semitism

Tomorrow is the 80th anniversary of Kristallnacht, “The Night of Broken Glass.” On November 9 and 10, 1938, Storm Troopers, Hitler Youth, and civilians rampaged through Nazi Germany, shattering the windows of more than a thousand synagogues, Jewish homes, and more than 7,000 businesses, arresting 30,000 Jews and transporting them to concentration camps. Some say the event marked the start of the Holocaust.

The anniversary comes just 13 days after the massacre of innocents at the Tree of Life synagogue in Pittsburgh, a chilling reminder that the flame of anti-Semitism burns on.

History books and the media chronicle the hatred and misplaced sense of superiority that fuels destruction of a people, like the remembrances of Kristallnacht. But evidence also lies in our genomes. That’s the case for the Ashkenazi Jews, whose ancestry traces back to Eastern Europe, not so very long ago.

Continue reading at my DNA Science blog for Public Library of Science, where this article first appeared. Read More 
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