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Genetic Linkage

The “Valley of Death” Looms for 8 Kids With a Rare Disease

Hannah Sames, here with her dog Ginger, awaits gene therapy. (photo: Dr. Wendy Josephs)
The pharmaceutical industry rightly calls the stage in drug development between basic research and clinical trials the “Valley of Death.” This is when a potential treatment that’s worked in mice, monkeys, and the like catapults to a phase 1 clinical trial to assess safety. It’s rare.

Francis Collins, MD, PhD, director of the National Institutes of Health, calls this period “where projects go to die.” The reason: $.

Matthew Herper writes in Forbes that the cost of developing a new drug is $4-11 billion, not the $1 billion that Pharma often claims. Yet even that $1 billion is unimaginable, especially when you put a face on a rare disease and witness what the family goes through to leap to phase 1.

For me, that face belongs to 8-year-old Hannah Sames, of Rexford, New York. Read More 
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10 Things Exome Sequencing Can't Do -- But Why It's Still Powerful

Clinically relevant information in DNA hides in repeats, controls, and "junk" -- not just the protein-encoding exome.
10 Things Exome Sequencing Can’t Do – But Why It’s Still Powerful

Sequencing of the exome – the protein-encoding parts of all the genes – is beginning to dominate the genetics journals as well as headlines, thanks to its ability to diagnose the formerly undiagnosable.

The 2011
Pulitzer Prize in Explanatory Reporting
honored the Milwaukee-Wisconsin Journal Sentinel’s coverage of a 4-year-old whose intestinal disorder was finally diagnosed after sequencing his exome.  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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