12th edition of my human genetics textbook


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Glenn Nichols, surrounded by his hospice team. The author is in yellow.

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Genetic Linkage

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

January 15, 2019

Tags: DNA

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.

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

January 14, 2019

Tags: James Watson

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.

Museum Genomes Explain the Plight of the Grauer’s Gorilla

January 14, 2019

Tags: 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.


How Bandersnatch Mirrors a Cancer Journey

January 7, 2019

Tags: Black Mirror, Bandersnatch

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.







A Proposed DNA Data Protection Act? The Cat’s Out of the Bag

December 20, 2018

Tags: genetic testing, 23andMe, Ancestry.com, genetic privacy, GEDmatch, Golden State Killer

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. (more…)

Genome of Galapagos Gentle Giant Lonesome George Leaves Clues to Longevity

December 13, 2018

Tags: Sulcata, Lonesome George

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.

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

December 13, 2018

Tags: CRISPR, He Jiankui

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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.


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

December 2, 2018

Tags: Ancestry.com, Sturtevant, centiMorgan

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.

Hiding in Plain Sight: Exploring Parkinson’s Link to the Appendix

December 2, 2018

Tags: Parkinson's disease, appendix, alpha-synuclein

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.

The Coffee-Genes Story Brews Discontent on Thanksgiving

November 25, 2018

Tags: coffee

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.



instruction
Project to engage students in helping families with rare genetic diseases
Book Club Reader's Guide
Many challenging questions to stimulate thought and discussion.
Instructor's Guide
38 discussion questions to get students thinking and talking about gene therapy, including the science, ethical issues, and the drug approval process.
Narrative science
The Forever Fix is the uplifting true story of 8-year-old Corey Haas, who was cured of hereditary blindness just 4 days after gene therapy.
College Textbooks
A spectacularly-illustrated, clearly written human anatomy and physiology textbook, used in pre-health profession programs throughout the U.S.
A highly engaging, clearly written, beautifully illustrated introduction to the science of human genetics for the non-scientist. Now in its 11th edition, 12th to be published in September 2018.
Nonfiction
An ideal starting point for anyone who wants to know more about genes, DNA, genomes, and the genetic ties that bind us all.

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