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Ricki Lewis

Genetic Linkage

10 Things Exome Sequencing Can't Do -- But Why It's Still Powerful

May 20, 2012
Tags: next generation sequencing, exome sequencing, Ambry Genetics, introns, triplet repeat disorders, Huntington disease, fragile X syndrome
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

May 13, 2012
Tags: homeotic, Drosophila melanogaster, Michael L. Cunningham, Ricki Lewis, American Journal of Human Genetics
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

May 5, 2012
Tags: HIV, gene therapy, Ricki Lewis, Don Kohn, Jim Wilson, The Forever Fix:Gene Therapy and the Boy Who Saved It, T cell, virus, gp 120, anti-retroviral, gene transfer
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

May 2, 2012
Tags: vaginal microbiome, penile microbiome, skin, Ricki Lewis, Human Microbiome Project
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

April 26, 2012
Tags: G-spot, The Journal of Sexual Medicine, Ricki Lewis, Adam Ostrzenski, EurekAlert
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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The Past and the Future of Gene Therapy

April 22, 2012
Tags: The Forever Fix: Gene Therapy and the Boy Who Saved It, Corey Haas, Hannah Sames, giant axonal neuropathy, Leber congenital amaurosis, Ricki Lewis, gene therapy
Corey Haas and Hannah Sames sign their photographs in "The Forever Fix: Gene Therapy and the Boy Who Saved It."
Yesterday I had two very special guests at my book talk and signing at the Schenectady library: Eleven-year-old Corey Haas, who is “the boy who saved gene therapy” in the metaphorical phrase in the book title, and eight-year-old Hannah Sames, who will have gene therapy.

Corey and Hannah represent gene therapy’s immediate past and future. They put faces on a once-moribund biotechnology reborn after a series of tragic errors and failures. They are also remarkable children: bright, poised, aware, and charming. They are making history. Read More 
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Vanquishing “Mossy Foot” With Genetic Epidemiology and Shoes

April 19, 2012
Tags: mossy foot, podo, podoconiosis, Charles Rotimi, Ricki Lewis, Fasil Tekola Ayele, Center for Research on Genomics and Global Health, National Human Genome Research Institute (NHGRI).
Podoconiosis is painful and isolating, affects millions, and is completely curable -- with shoes.
This blog was first published at Scientific American blogs

In Fasil Tekola Ayele’s native Ethiopia, the people call it “mossy foot.” Medical textbooks call it podoconiosis, non-filarial elephantiasis, or simply “podo.”

The hideously deformed feet of podo result not from mosquito-borne parasitic worms, as does filarial elephantiasis, nor from bacteria, like leprosy. Instead, podo arises from an immune response to microscopic slivers of mineral that penetrate the skin of people walking barefoot on the damp red soil that tops volcanic rock. Podoconiosis means “foot” and “dust” in Greek.  Read More 
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Treat Cellulite, or Rare Diseases?

April 11, 2012
Tags: Cellulite, rare diseases, Ricki Lewis, The Forever Fix, Today show, Cellulaze, NORD, CheckOrphan, Canavan Research Illinois, Cystinosis Research Foundation, Hannah's Hope Fund
“Next, news that all women will want to hear!” teased the commentator on the increasingly imbecilic Today Show.

Soon I learned that, finally, we womenfolk need no longer suffer from the “horrible, dimpled ‘orange peel’ skin” of cellulite. The new miracle cure sounded like “cellulase,” an enzyme that breaks down wood.

Googling, I soon discovered that “Cellulaze” is instead a new laser technique that “pinpoints and disrupts dimpled pockets of herniated fat” and melts away the collagen cords that hold in place the vile lipid, while promoting formation of new collagen and elastin. It joins a long list of cellulite remedies, including sound waves, radio waves, massage, retinol, red algae patches, and extracts from licorice roots, horse chestnut, and kola. The market is $2.3 billion. Read More 
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Limits of Genome Sequencing Not a Surprise

April 3, 2012
Tags: whole genome sequencing, whole exome sequencing, Ricki Lewis, Bert Vogelstein, Science Translational Medicine
The news is being trumpeted everywhere – whole genome sequencing won’t help the average person predict common illnesses.

This isn’t exactly astonishing to anyone who has taken a genetics course, but the Johns Hopkins team, in Science Translational Medicine, provides elegant evidence to back up the long-held idea that the so-called “complex," common diseases result from so many intertwined inherited as well as environmental threads that using a DNA sequence as a crystal ball just won’t work – at least until more data accumulate. Read More 
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Seeking a Second, More Specialized Opinion

March 28, 2012
Tags: osteogenesis imperfecta, brittle bone disease, Ricki Lewis
A challenge of living with a genetic disease, especially a very rare one, is that the mutation may affect different body parts. A health care practitioner may not consider a patient’s inherited condition, especially if the most recognizable symptoms don’t fall into his or her specialty.

Shirley Banks discovered the importance of seeking a second, specialized opinion when the doctor she’d been seeing for many years had a disturbing reaction to a question.

The Long Road to a Diagnosis

The Banks family has osteogenesis imperfecta, (OI) which affects 1 in 20,000 live births.  Read More 
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