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Genetic Linkage

How Kevin Spacey is Altering Our Genes

Ridiculous headline? It’s just about as ridiculous as the one that circulated the Internet last week, parroting a genetically-ignorant news release from UCLA.

Here’s the headline, this one from Science Daily: “Fructose alters hundreds of brain genes, which can lead to a wide range of diseases.”

Imagine that. I can bite into a peach and jumpstart genetic chaos. I can give myself diseases with a frappuccino. Would a jolt of the high-fructose-corn-syrup variety kill me?

The good news is that apparently a diet rich in omega-3 fatty acids can reverse the rampant brain damage wrought by the evil sugar. The bad news is that the study was performed on 24 rats, counting the controls. And, of course, the science isn’t at all what the news release says it is.  Read More 
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No Pain and Extreme Pain From One Gene

Sensory neurons derived from induced pluripotent stem cells from patients with "burning man syndrome"
The family from northern Pakistan is one of the strangest to appear in the scientific literature. At its center is a 10-year-old, a street performer who walked on hot coals and inserted daggers through his arms before astonished crowds – feeling absolutely no pain. He died at age 13 from jumping off of a roof, considering himself impervious to all injury.

I’ve included this story in my textbooks for so long that I recently began to wonder if I’d been perpetuating an urban legend. Then a study in this week’s Science Translational Medicine led me back to the Pakistani boy. He was real. And it turns out that different mutations in the same gene can cause complete absence of pain, or attacks of pain so severe that sufferers compare the sensation to dipping one’s feet into hot lava. In these extremes lie clues to developing new painkillers. Read More 
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Second Gene Therapy Nears Approval in Europe: Lessons for CRISPR?

CRISPR-Cas9 gene editing has been around not even 4 years, and people are avidly discussing its promises and perils. That’s great. But consider the historical backdrop.

April 1, the European Medicine Agency’s (EMA) Committee for Medicinal Products recommended for marketing approval a second gene therapy. “Strimvelis” treats adenosine deaminase severe combined immunodeficiency syndrome (ADA-SCID) and was developed at the San Raffaele Telethon Institute for Gene Therapy in Milan and GlaxoSmithKline. Regulatory approval is expected within a few months.

I wonder how many people realize, especially those fearful of how gene editing might be misused, that the gene therapy that is nearing approval actually entered clinical trials 26 years ago? Read More 
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Redhead Gene Doubles Melanoma Risk, Without Sun

Variants of the melanocortin-1-receptor (MC1R) gene impart the red hair, fair skin, and freckles of a Prince Harry or Wilma Flintstone – and also poorer protection against ultraviolet (UV) radiation and therefore higher risk of developing skin cancers, including melanoma. But a new study published in JAMA Dermatology reveals that MC1R genotype alone more than doubles the risk of melanoma.

The Ginger Gene
Many colorful creatures owe their distinctive phenotypes to MC1R variants, from red pandas and ruffed lemurs, to Golden retrievers and brown cavefish and Kuzakh fat-rumped sheep. Orangutans are an exception – their hue arises from a different gene. Read More 
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Gorilla Genome 2.0: Lessons for the Clinic?

Susie lives at the Lincoln Park Zoo, in Chicago
The unveiling of a new and improved gorilla genome sequence isn’t a “first,” but the differences between it and gorGor3, from 2012, echo clinical situations that can arise when genetic information is incomplete.

First, the gorilla news.

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