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Genetic Linkage

Hannah’s 2016: From Curling Toes to Gene Therapy

Hannah Sames will have gene therapy in March, after an 8-year effort from her family. Go Hannah!
Eleven-year-old Hannah Sames can still curl her toes, just barely. But time is running out.

If Hannah can move her toes for a few more weeks, until she becomes the fourth child in a clinical trial for gene transfer to treat giant axonal neuropathy (GAN), the disease might halt – she may even regain function, as mice did.

It’s been an 8-year wait. So Facebook friends call 2016 “Hannah’s year.”

The first sign that something was amiss  Read More 
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Eman Reports from Ebola Ground Zero

Eman (arrow) at an Ebola awareness workshop a few weeks ago. He is in the hospital now, with a fever, but has tested negative for Ebola.
My last post continued Emmanuel Gokpolu’s reporting from Ebola ground zero in Liberia. Ebola interrupted Eman’s medical education, so now he is educating his people about strategies to minimize risk of infection.

Eman and I began a very special friendship when he first contacted me when using my human genetics textbook in college. Right now he is in a hospital with a fever, after finally convincing the staff to admit him. It might be a flare-up of his malaria, we don't yet know.

This post picks up in early October, when Ebola suddenly jumped from a topic rarely reported in the U.S. ,to major news when it arrived here.  Read More 
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My blog is "DNA Science" at Public Library of Science

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Hi everyone! Since last fall I've been blogging for Public Library of Science , at http://blogs.plos.org/dnascience/.

As you can see, I gave up cross-posting here on July 4 because through this site (Author's Guild) I have to type in all the html code, whereas PLOS uses an easy wordpress template. I got lazy. But not about blogging! So check out DNA Science at Public Library of Science. A new post every week, and I'm open to ideas and guest bloggers.

I always try to write about what everyone else misses.

Join me!  Read More 
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Hidden Meanings in Our Genomes – And What To Do With Mendel

Gregor Mendel: should he stay or should he go (in textbooks)? (National Library of Medicine)
Summer reading for most people means magazines, novels, and similar escapist fare, but for me, it’s the American Journal of Human Genetics (AJHG). Perusing the table of contents of the current issue tells me what’s dominating this post-genomic era: information beyond the obvious, like a subtext hidden within the sequences of A,  Read More 
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If “Fifty Shades of Grey” Had Been Written by a Biology Textbook Author

What if "Fifty Shades of Grey" was about -- digestion?
Come summertime, even nerds need to escape to a trashy novel. Megabestseller “Fifty Shades of Grey” tells the tale of Anastasia Steele, an innocent ensnared within the orbit of the mysterious “dominator” Christian Grey. Despite its enshrinement at the top of the Amazon ranks, the book reads as if written by a horny 15-year-old,  Read More 
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Max Graduates!

14-year-old Max Randell, who has Canavan disease, is graduating middle school!
Max Graduates!

Tomorrow night, Max Randell will graduate from middle school. He even passed a test on the U.S. Constitution. I don’t think I could do that.

Max has Canavan disease. And thanks to gene therapy, he’s here to celebrate.

Canavan disease is an inherited disease that strips the insulation from nerve cells in the brain. It destroys neural function, beginning at birth and likely before, and the child loses the battle by age 8 -- unless she or he has gene therapy, still experimental (as are all gene therapies).  Read More 
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Kids With 2 Upper Jaws -- And My Fruit Flies

3D CT scan of child with ACS. Lower jaw is small and malformed (left); same aged child with normal jaw (middle); lower jaw of child with ACS inverted over upper jaw of normal skull (right). (Credit: Image courtesy of Seattle Children’s).
Body-Altering Mutations – In Children and Flies

I became a science writer, circa 1980, because I didn’t think flies with legs growing out of their heads – my PhD research – had much to do with human health. So when I spied “A Human Homeotic Transformation” way down on the Table of Contents in the May issue of the American Journal of Human Genetics, I was as riveted as a normal person would be getting a copy of People with a celebrity on the cover. Read More 
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The Irony of HIV Gene Therapy

HIV on a human lymphocyte.
Buried somewhere beneath the long-awaited announcement of the birth of Jessica Simpson’s baby on May 2 was encouraging news about HIV infection: gene therapy appears to be safe.

Anti-retroviral drugs (ARTs) have been remarkably successful, but they require daily doses and have adverse effects. Gene transfer is an alternative approach that gives selected cells the genes to manufacture proteins necessary to counter a particular disease. Gene transfer (which technically becomes gene therapy once it works) to treat an enzyme deficiency, for example, provides genetic instructions for the missing enzyme. To treat an infection or cancer, gene therapy bolsters immune system cells.
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My Microbiome

I'm reposting this 2-year-old blog about the various bacterial outposts in the human body, in celebration of today's publication of the microbiome of a very special, intimate place. (I can say no more because it is embargoed until 2PM, when I will be traveling.)


Yesterday I committed a terrible crime. I walked away from a treadmill at the Y without scrubbing the handles.

“Ricki, get back here,” admonished the attendant as I headed for the elliptical. “You forgot to wipe down!”

“But I’m not sweating, and I never get sick. I won’t pass along  Read More 
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A Tale of 2 G-Spots

First published in Scientific American (blogs), 4/25/12

When cosmetic gynecologist Adam Ostrzenski, MD set out to discover the elusive G-spot, the part of a woman’s anatomy supposedly responsible for orgasm, he followed a flawed premise – but his finding announced today will undoubtedly generate frantic media coverage.

The discovery of the G-spot in a lone elderly corpse and the lack of information on just what Dr. O dissected are obvious limitations of the paper in the Journal of Sexual Medicine, a peer-reviewed publication from Wiley. Less obvious is trouble with a different G – the guanine in genes. Read More 
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