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

Genetic Linkage

Cialis Comes Full Circle – Help for Muscular Dystrophy

November 29, 2012

Tags: Cialis, muscular dystrophy, erectile dysfunction, Viagra, Science Translational Medicine, repurposed drugs

One symptom of Becker muscular dystrophy is fatigue and injury of exercising muscles, such as in gripping a weight.
Becker muscular dystrophy is a muscle-wasting disease that is rarer and less severe than the more familiar Duchenne type. Both conditions are basically untreatable. But according to a study published today in Science Translational Medicine, Cialis may alleviate the associated muscle fatigue and damage.

Yes, Cialis. The erectile dysfunction drug.

To anyone who’s followed the Viagra story, use of its cousin Cialis to treat muscle disease is not so much repurposing as it is a logical extension, based on regulating blood flow.

Viagra, developed in 1989, began its ascent three years later, when participants in a clinical trial to treat angina, which is chest pain due to blocked blood flow, reported strikingly improved erections. Taking a pill to treat what was about to evolve from “impotence” to “erectile dysfunction” trumped penile implants and injections, or older approaches of ingesting camel hump fat, jackal bile, or various herbs. Pfizer introduced Viagra to the world in 1998. (more…)

JIM: More Compelling Than GATTACA

November 24, 2012

Tags: GATTACA, dystopia, genetic engineering, eugenics, science fiction

"Jim" the film is the brilliant brainchild of self-taught filmmaker Jeremy Morris-Burke.
For 15 years, the film GATTACA has been synonymous with “genetic dystopian future,” and has become a mainstay of genetics classrooms. But I’ve found a better film. It’s called, simply, JIM.

I never could connect with GATTACA, the dark tale of an assumed genetic identity in a society where the quality of one’s genome dictates all. Perhaps because in 1997, the pre-genome era, the idea of ordering a DNA test over the Internet was still science fiction. But ironically GATTACA’s “not-too-distant” future, in which a genetically inferior “invalid” impersonates a “valid” to achieve a dream, sets up a too-obvious conflict, with the details and resolution contrived. I know this from years of reading fiction and watching soap operas. (more…)

Mice With Human Liverlets Test New Drugs

November 17, 2012

Tags: drug-drug interactions, drug development, hepatitis C, mouse models

Mice with human livers are better models for spotting drug-drug interactions than are mice with only their own livers.
“Scientists at Stanford have produced mice with human brains, pigs with human blood flowing through their veins, and a human born to mice parents and mice with human heads.”

So wrote a student summarizing the “Genetically Modified Organisms” chapter of my human genetics textbook a few years ago. Two of the four comments are true, sort of.
(more…)

Why I Don't Want to Know My Genome Sequence

November 2, 2012

Tags: exome, genome, human genome project, Craig Venter, James Watson, Ozzy Osbourne, Francis Collins

Even after writing 10 editions of a human genetics textbook, I don't want to know my genome sequence. Yet.
Famous folk have been writing about their genome sequences for a few years now. But when I received two such reports at once last week – about genetics researcher Ron Crystal, MD, and a hypothetical (I think) story about President Obama, I knew it was time to take action.

Or, in my case, inaction. (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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