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Genetic Linkage

People need a better understanding of how CRISPR works, researchers say



Google "CRISPR" and headlines touting "designer babies," "human rights," and "bioethics" are more likely to come up than descriptions of how researchers are actually using the powerful new technology.


Initial public outcry over a novel medical technology isn't anything new: vaccines, transfusions, transplants, recombinant DNA, in vitro fertilization, preimplantation genetic diagnosis, GMOs, gene therapy – the list is long.


But genome editing, using tools such as CRISPR, seems to have struck a public nerve in a more profound way, largely because of the reported rush to tinkering with human fertilized ova, fertilized ova, an intervention that would alter the genomes of future generations.


But what does the public really understand about "clustered regularly interspaced short palindromic repeats," aka CRISPR? It's fairly complicated to follow the details – the choreography of DNA, RNA and proteins; nuances of repeated and unique DNA sequences; details of recombination and DNA repair. But a PhD certainly isn't necessary to ponder the consequences of the ability to modify the human germline – the DNA that's passed on to future generations.


A carefully designed and tested questionnaire


In a paper in the January 2019 issue of Human Gene Therapy, Alex Hewitt, of the Menzies Institute for Medical Research at the University of Tasmania, a professor of ophthalmology who also has a PhD, and colleagues probed the reasons behind public perception of human gene editing


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





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300th Post at DNA Science Today

This is my 300th blog post for DNA Science. I'm so grateful to Public Library of Science for enabling me to comment so freely on all matters of genetics and genomics.


This week I look back on the crazy diversity of topics over the past year or so, and end with the posts that garnered the most attention, both good and bad. Two posts actually led to death threats.


I began DNA Science in September 2012, soon after my book The Forever Fix: Gene Therapy and the Boy who Saved It, was published. Luxturna, the blindness gene therapy that the book was about, received FDA approval at the end of 2017. And so the tag cloud focuses on gene therapy and diseases. But there's so much more, including my recent fascination with genetic genealogy, upon discovering half a dozen half-siblings.


The rest of the post links to the most popular and most controversial entries over the past 3 years. To continue reading go to DNA Science.




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A New Memoir about Donor Conception Confronts Genetic Determinism

In her just-released memoir "Inheritance: A Memoir of Genealogy, Paternity, and Love," Dani Shapiro tells of discovering that she was donor-conceived. The subtext of her compelling story is to confront genetic determinism: the idea that we are our genes.


Dani found her biological father (BF) just 36 hours after receiving surprising results from consumer DNA testing. My story, still unfolding, is much more typical, as I wrote last week.


In a few ways Dani's experience was opposite mine, although our journeys both began with Dani's trajectory, somewhat atypical, was to find first that her half-sister wasn't her half-sister; that she had a new first cousin who would turn out to provide a crucial clue; and that she was only half Ashkenazi Jewish.


(This post became outdated days after I wrote it, when another half-sister contacted me. There are, at last count, 5 or 6 of us!)


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


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I’m a Geneticist. A DNA Test Uncovered a Half-sister and Sparked Painful Questions

In her new book, "Inheritance: A Memoir of Genealogy, Paternity, and Love," Genealogy, Paternity, and Love," author Dani Shapiro is speaking for tens of thousands of us who are discovering that we are "NPE." Not Parent Expected.


Dani learned that the man who raised her and who she thought was her father was not so, biologically speaking, thanks to a DNA ancestry test.


My own discovery is so overwhelming that I can't talk about it much, even though my new half-sister has possibly saved my life by adding to my known family's cancer history, affecting a recent medical decision. So thank you Dani. Here's a short version of my story, as many of us face the deluge of new cousins coming in from the holiday wave of DNA tests.


Initially ignored


The first email came September 8, 2018:


"AncestryDNA says we're close family, maybe first cousins. My maiden name is Penny Krause. Sound familiar? I grew up in Brooklyn."



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



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Selling Yourself: There’s a Growing Market for Your DNA Data

On December 5, the US Securities and Exchange Commission gave the go-ahead for LunaDNA to offer ownership shares to people providing their “personal health information,” including their DNA data.

The SEC thumb’s up may be a first, but it follows in the footsteps of Nebula Genomics, which Harvard’s George Church founded in 2016. The Nebula strategy: “Get sequenced. Discover your DNA and ancestry. Become one of the first to profit from your own genomic data.” (However, the public launch of LunaDNA was in December 2017, but Nebula in February 2018).

Both celestially-named companies connect consumers who have access to their DNA findings to researchers whose projects require a critical mass of data. Everyone wins. And in the process, the economics of human DNA sequencing has completely turned around. DNA data are now information for sale.

Remember the decade when sequencing the first human genome came with a $2.7 billion price tag?

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

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Genetics Pioneer James Watson Stripped of Final Honorary Titles over Race Views

James Watson is best known for co-discovering DNA’s 3D structure and for helming the Human Genome Project at the beginning. But he’s also been known more recently for his racist statements. In the latest chapter of the dark side of Dr. Watson, Cold Spring Harbor laboratory issued a statement on January 11 condemning recent comments that he made January 2 on the PBS series “American Masters: Decoding Watson.”

The move effectively removes the final honorary positions held by Dr. Watson at the lab he once helmed.

According to the statement by Cold Spring Harbor lab:

Dr. Watson’s statements are reprehensible, unsupported by science, and in no way represent the views of CSHL, its trustees, faculty, staff, or students. The Laboratory condemns the misuse of science to justify prejudice.

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

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Museum Genomes Explain the Plight of the Grauer’s Gorilla

When a population rapidly plummets, the chance sampling of genetic drift and inevitable inbreeding can accelerate the pace of extinction. A new report in Current Biology reveals the genetic evidence behind the dire situation for Grauer’s gorilla.

Ancestral gorillas split into eastern and western species about 150,000 years ago. The western animals then split to yield the western lowland gorilla and the cross river gorilla subspecies. The eastern contingent diverged to give rise to the mountain gorilla and Grauer’s gorilla (aka eastern lowland) subspecies. This last primate lives in the Democratic Republic of Congo and is critically endangered.

From 5 to 10 million years ago, eastern gorillas were doing just fine. Then about 100,000 years ago, their populations began to decline. About 10,000 years ago they split into the mountain and Grauer’s subspecies. Then from 5,000 to 10,000 years ago, the Grauer’s population took off, expanding so quickly that some dangerous mutations occurred and accrued. Mountain gorilla populations remained fairly small, the numbers not allowing many mutations to accumulate.

Then about twenty years ago, the Grauer’s group hit a population bottleneck, and the numbers crashed down to about 4,000 animals, thanks to habitat destruction and poaching.

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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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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