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

New Treatment for Phenylketonuria (PKU) Clears Brain Fog

June 21, 2018

Tags: PKU

In the 1959 novella Flowers for Algernon by Daniel Keyes (and the 1968 film Charly), 32-year-old Charlie Gordon, a janitor at a New York City bakery, undergoes experimental surgery that has boosted the intelligence of a laboratory mouse, Algernon. Soon, Charlie is devouring books, asking questions, and even solving problems at work. But then Algernon dies, and in a short while Charlie returns to his normal state of intellectual dullness. But now he becomes distraught, recognizing his limitations in a way that he didn’t before the surgery.

Dan Peterson is about Charlie’s age, and he, too, has recently experienced a new clarity of thinking thanks to a treatment. In Dan’s case it’s an enzyme substitution therapy called Palynziq (pegvaliase-pqpz), which he injects under his skin daily. FDA approved it on May 24 to treat phenylketonuria (PKU). But unlike Charlie’s brief experience, Dan’s treatment should last. (more…)

Why We Aren't Yet on the Verge of a Preemie Prediction Test

June 21, 2018

Tags: preemie

(Versys Clinics)
Earlier this month, I saw an interesting juxtaposition of newly-published papers making headlines. One was about predicting breast cancer recurrence and the effect on chemo choice, the other on predicting premature birth within two months of the due date.

Apples and oranges, perhaps, but both indications use the same technology: gene expression profiling (measuring messenger RNAs, aka transcripts, which guide synthesis of specific proteins). But the studies are at opposite ends of the research trajectory, with the breast cancer paper representing thousands of patients who’ve taken a test that’s been on the market for years, and the prematurity paper a pilot study of only a few dozen women. (more…)

Gene Therapy for Myotubular Myopathy: Early Signs of Success!

June 11, 2018

Tags: myotubular myopathy, gene therapy

Paul Frase with his son Joshua.
Parents cherish developmental milestones, from a newborn’s grip of an offered finger; to an infant’s holding her head up the first time; to rolling over, creeping, and crawling; then to standing, cruising, and finally walking. Even kicking during a diaper change or yowling requires muscle strength and coordination. But a boy with X-linked myotubular myopathy (MTM) is so weak that even breathing is a huge struggle. If a baby survives the initial hospital stay, care at home becomes a full-time job and is only supportive, delaying the inevitable. That grim picture may be changing. (more…)

Can the Egyptian Fruit Bat’s Unusual Genome Show Us How to Fight Deadly Marburg Virus?

June 11, 2018

Tags: Egyptian fruit bat, Marburg virus, Ebola

The Egyptian fruit bat's immune system enables it to peacefully co-exist with Marburg virus, which can cause a swiftly deadly infection in humans. Although Marburg virus disease affects only a few dozen or hundred people a year, the case:fatality ratio in the scattered outbreaks ranges from 50% to 100%. A recent paper in Cell that explores the bat's genome reveals how its immune system may prevent the virus from harming the flying mammals, which may hold clues for preventing or treating the infection in humans.
(more…)

New Forensic Tool: Using DNA to Predict Hair, Eye and Skin Color

June 1, 2018

Tags: Words or phrases to categorize this post for the tags section

On May 14, a man walking along the shore on Gabriola Island in British Columbia came upon a washed-up human foot enmeshed in a tangle of logs, the appendage still in a hiking boot. It was the thirteenth disembodied foot found in the Pacific Northwest since 2007, twelve in running shoes.

Could DNA testing predict faces to go with the mysterious floating feet? A new genetic test might help — it can deduce hair, eye, and skin color from forensic or anthropological evidence. (more…)

A New Goal for Gene Therapy: Pet Contraception

June 1, 2018

Tags: pet contraception

Each year in the U.S. 1.4 million cats and 1.2 million dogs are euthanized to control their numbers, yet the stray population is many times larger – despite the fact that spaying or neutering is a rite of passage when adopting a kitten or puppy. Surgical contraception works, but is painful, invasive, and includes the risk of anesthesia.

Might gene therapy provide a one-time, far less invasive way to ensure that cats and dogs do not beget kittens and puppies? That’s one of the goals of the Alliance for Contraception in Cats & Dogs. I’ll be speaking at their annual meeting in July, although I’ll admit that using gene therapy for pet contraception is a new idea for me. (more…)

French Anderson, “Father” of Gene Therapy, Released From Prison

May 19, 2018

Tags: French Anderson, gene therapy

Tonight French Anderson, 81, was released from state prison in California, after serving nearly a dozen years for “inappropriate touching and medical exams” of a girl, from 1997 to 2001, starting when she was ten.

Dr. Anderson headed the first clinical trial for gene therapy at the NIH in 1990, and he helped me when I was writing my book about the field, The Forever Fix: Gene Therapy and the Boy Who Saved It, which St. Martin’s Press published in 2012. I’d snail mail chapters to French’s wife Kathy, she’d take them to him, he’d mark them up with a pencil, and she’d mail them back.

French has always maintained his innocence and went to great effort to forensically discount the evidence against him, with several investigators demonstrating that the audiotape used to convict him– he appears to apologize to the victim – was spliced. He claims other evidence was falsified.

It is a complicated story involving the Chinese government’s interest in his discovery that an interleukin given to mice after exposure to high doses of radiation rescued them – a finding with profound military applications that was not the impetus for the study. French had been interested in treating radiation poisoning in cancer patients. A researcher in his lab patented the work in China – and she is the mother of the sexual abuse victim. I’ll leave it to others to assemble the puzzle pieces.

But I am sitting here absolutely stunned that one of the first things that French did when he returned home was to call me! Minutes ago! (more…)

Making Sense of Crowdfunding for Unapproved Stem Cell Treatments

May 19, 2018

Tags: stem cells, ClinicalTrials.gov

Sonny Mayo has turned to a GoFundMe drive to raise money for a stem cell treatment. (Image credit: Sonny Mayo)
When FDA approval for a technology or treatment lags behind demand, crowdfunding steps in. Desperate patients or their families launch such campaigns when insurance won't help. And that goes for potential uses of stem cells.

The diversity of medical conditions in crowdfunding campaigns for stem cell treatments reflects the perception that stem cells can cure anything. Indications range from the common – stroke, autism, multiple sclerosis, to Parkinson’s disease – to genetic diseases, injuries, degenerative conditions, and even infections. Yet some people seek stem cell support for “a fresh lease on life” or “rejuvenation.” More common, though, are tragic narratives of a “last option” or “a few months left.” They’re hard to read. (more…)

Celebrating The Moms of Gene Therapy

May 19, 2018

Tags: gene therapy

Talia Duff has a rare form of Charcot-Marie Tooth disease (as well as trisomy 21 Down syndrome), with her mom Jocelyn.
As Mother’s Day and the annual meeting of the American Society of Gene and Cell Therapy approach, I’d like to update the stories of some of the moms I’ve written about, and introduce a new friend with perhaps the most astonishing gene therapy experience of all.

These women are some of the pioneers whose efforts will bring gene therapy to many more families. I wrote about Lori and Ilyce in my book The Forever Fix: Gene Therapy and the Boy Who Saved It, and met the others when they contacted me after reading it. (more…)

Genetic Privacy and the Case of the Golden State Killer - Diving Into the Science

May 11, 2018

Tags: DNA profiling, CODIS, Golden State Killer, STRs, forensic genotyping

The alleged Golden State Killer -- caught with a familial clue from an ancestry DNA database.
Consumer DNA testing companies are rushing to reassure customers about the security of their genetic information following news that DNA data from a genealogy website was used by police to arrest the man they believe is the Golden State Killer, responsible for at least 12 murders and more than 50 rapes from 1976 to 1986.

But are DNA data ever really private? (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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