12th edition of my human genetics textbook


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

Genetic Linkage

Rampage: Jurassic Park Lite with a Helping of CRISPR Critters

April 23, 2018

Tags: Rampage, CRISPR

Is a film based on a video game with fleeting mentions of a biotech buzzword compelling sci-fi? No. But I liked Rampage anyway.

The use of CRISPR to edit genes is perhaps the only novel plot point in this latest monster movie. An evil head of a biotech company subverts a scientist’s work to fashion a bioweapon that revs up the growth hormone gene, and more, in three unfortunate animals. Cue Godzilla, King Kong, and the beast in Lake Placid. (more…)

Don’t Tell Me My DCIS Isn’t Cancer!

April 21, 2018

Tags: breast cancer, DCIS

“DCIS isn’t really cancer. You have nothing to worry about,” said my oncologist confidently.

“Then why am I having a mastectomy in four days?” I blurted.

“DCIS doesn’t spread. So it isn’t cancer.”

“But the “c” stands for carcinoma, a cancer of epithelial tissue. How is that not cancer?” I asked.

“DCIS. Can’t. Spread.”

Case closed. But I knew what he meant. Ductal carcinoma in situ isn’t cancer, some say, because “in situ” means “in place,” and invading healthy tissue is one of the nine characteristics of cancer I’ve listed for years in my textbooks. Eight out of nine was enough to convince me that Hannibal had to go.

Why name my DCIS? (more…)

Jackass Genomics – Did Donkeys Arise from an Inverted Chromosome?

April 10, 2018

Tags: equine genetics

In the world of genome sequencing, donkeys haven’t received nearly as much attention as horses. But now a report on a new-and-improved genome sequence of Willy, a donkey (Equus asinus) jack born at the Copenhagen Zoo in 1997, appears in the new issue of Science Advances, from Gabriel Renaud, of the Centre for GeoGenetics, Natural History Museum of Denmark. (A female is a jenny or jennet.) The new view provides clues to how donkeys may have branched from horses along the tree of evolution. (more…)

Mood Disorders More Common in Children of First-cousin Parents, Study Finds

April 10, 2018

Tags: consanguinity, cousins

Having parents who are first cousins doubles the risk of inheriting a single-gene condition, from 2.5 percent to about 5 percent. But it’s harder to quantify risk for psychiatric illnesses because they typically arise from interactions among genes and environmental factors. But now a study from Northern Ireland published in JAMA Psychiatry shows that offspring of cousin-cousin parents are at higher risk for common mood disorders.

The study found that children from these unions face a three-fold increase in the likelihood of taking antidepressants and a two-fold increase in taking antipsychotics. For purposes of the study, taking an antidepressant or antianxiety drug was a stand-in for having a mood disorder and taking an antipsychotic represented conditions with a psychotic component, such as schizophrenia. (more…)

Examining The Curious Genes Behind “Magic Mushrooms”

April 5, 2018

Tags: magic mushrooms

"One pill makes you larger, and one pill makes you small," sang Grace Slick in Jefferson Airplane’s classic White Rabbit, conjuring images of Alice in Wonderland in Lewis Carroll’s 1865 novel. But Alice also nibbled a mushroom to grow taller or smaller, following the advice of a hookah-smoking caterpillar perched atop the fungus.

Alice might have munched one of the 200 species of mushroom that produce psilocybin, a hallucinogen. A recent article in Evolution Letters, from Jason Slot, an assistant professor of fungal evolutionary genomics at The Ohio State University and co-workers, reports the sequencing of the genomes of three species of psychedelic mushrooms: Psilocybe cyanescens, Gymnopilus dilepis, and Panaeolus cyanescens. (more…)

A Hiccup in Gene Therapy Progress?

April 5, 2018

Tags: gene therapy

Zebrafish, roundworms, fruit flies, mice, rats, rabbits, dogs, cats, pigs, and monkeys provide steppingstones to clinical trials to evaluate new treatments for people. The value of animal studies continues, even after a new drug shows promise or is approved.

A recent study on a gene therapy given to monkeys and pigs, similar to one that has already had spectacular results in children, may warn of possible dangers of escalating doses – or not. (more…)

20 Gene Variants and Transgender Identity: What Does It Mean?

March 26, 2018

Tags: transgender

The week started strangely.

On Monday morning, the author of a new book on transgender identity emailed me, asking about my research (I don’t have any). She’d read my comments in The Daily Mail, about an abstract from a meeting, identifying gene variants associated with transgender identity in a handful of people. But the Daily Mail writer, with whom I hadn’t communicated, didn’t identify the researcher. So people thought it was me.

Soon, Google Alerts sent me the full version of the article in by Oliver Moody, and then I recalled having emailed with him. (This is the Times of London; the New York Times rejects anything I send.) (more…)

Ground Control to Major Scott: The Genetics of NASA’s Twins Study:

March 26, 2018

Tags: Twins Study

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When the Today Show reported on March 15 that the DNA of Scott Kelly, who spent a year on the International Space Station while identical twin Mark stayed earthbound, had changed in space, you’d think he’d returned bearing the genome of a rutabaga compared to that of his boringly human terrestrial twin.

NASA’s several webpages of information on the Twins Study offered just one sentence about changed genes – and most of the rest, about gene expression, was widely misinterpreted in the media. (more…)

The Biology Behind the Fertility Clinic Meltdown

March 26, 2018

Tags: meiosis, egg freezing, cryopreservation

A surprise thawing could damage the delicate spindle apparatus that separates chromosome sets as an egg is fertilized.
The spindle apparatus is among the most elegant structures in a cell, quickly self-assembling from microtubules and grabbing and aligning chromosomes so that equal sets separate into the two daughter cells that result from a division. But can spindles in cells held at the brink of division in the suspended animation of the deep freeze at a fertility clinic survive being ripped from their slumber off-protocol. That's what happened the weekend of March 4 at the Pacific Fertility Clinic in San Francisco and University Hospitals Fertility Center in Cleveland.

It was a stunning coincidence impacting the eggs or embryos of 500 couples on the west coast and 700 using the Ohio clinic. Liquid nitrogen ran low in a cryogenic device in San Francisco, and temperature fluctuations reportedly plagued the Cleveland facility. (more…)

Can Liquid Biopsies Compete with Scopes and Scans in Cancer Diagnosis?

March 15, 2018

Tags: liquid biopsy

March is National Colorectal Cancer Awareness Month, the perfect time to bring up the value of colonoscopies and mammograms. These procedures may seem old school for old folks, but they save lives – more directly than genetic testing. Scopes and scans saved mine and my husband’s (more…)

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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