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Stories by Ricki Lewis

Gene Therapy's Second Act

A decade and a half after a series of tragic setbacks led to critical reevaluations, scientists say gene therapy is ready to enter the clinic

March 3, 2014 — Ricki Lewis

Incidental Findings from Genome Sequencing Nuances and Caveats

You have your genome or exome (the protein-encoding part) sequenced to help diagnose a puzzling set of symptoms, and something totally unrelated, and unexpected, turns up – a so-called “incidental finding.”Surprises, of course, aren’t new in medicine...

March 22, 2013 — Ricki Lewis

New Guidelines on Testing Kids DNA-the Cliff s Notes Version

Exomes are big news. Sequencing of the protein-encoding part of the genome is increasingly solving medical mysteries in children. It began with Nicholas Volker and his recovery from a devastating gastrointestinal disease with a stem cell transplant once his exome sequence revealed his problem.And my recent Medscape assignments reveal the trend: 7 of 12 kids’ exomes leading to diagnosis at Duke University (from May 10, 2012); whole genomes of 5 infants from the neonatal intensive care unit at Children’s Mercy Hospital and Clinics in Kansas City, Missouri (from October 3), in just 50 hours each, focusing on 600 single-gene diseases; and 300 patients at the Whole Genome Laboratory at the Baylor College of Medicine, with 300 more waiting -- 85% of them kids (from November 9, 2012).But wait.Before we all run out to get our exomes and/or genomes sequenced, it might be a good idea to slow down and look at how to handle existing, single-gene tests – especially in children...

February 21, 2013 — Ricki Lewis

The Battle of the Prenatal Tests

The young couple looked at me expectantly as I re-read the amnio report and tried to decide what to tell them.“The ultrasound from 15 weeks looks fine,” I stalled, trying to present the good news first.“What about the amnio?”“Well, there is something unusual...

December 5, 2012 — Ricki Lewis

The Denisova Genome and Guys Banging Rocks

As a textbook author, I often have to evaluate new research and predict whether it will stand the test of time. I’m a skeptic. But when Svante Pääbo, director of the Department of Evolutionary Genetics at the Max Planck Institute for Evolutionary Anthropology in Leipzig and his colleagues introduced a new member of the human family in 2010 based on a preliminary genome sequence from a finger bone found in Denisova Cave in the Altai Mountains of southern Siberia, with few other clues, I included her in my book...

August 30, 2012 — Ricki Lewis

Like a Game of Clue, Genomics Tracks Outbreak, Revealing Evolution in Action

Was it Colonel Mustard in the library with a lead pipe? Or Mrs. Peacock in the ballroom with a candlestick? No, it was deadly, drug-resistant Klebsiella pneumoniae from a 43-year-old woman spreading to 17 other patients, killing 6 of them and sickening 5 others, at the National Institutes of Health’s (NIH) Clinical Center in June 2011.In a biotech version of the classic board game "Clue," researchers from the National Human Genome Research Institute (NHGRI) used genome sequencing to solve the medical mystery of how the infection spread...

August 22, 2012 — Ricki Lewis

Hidden Meanings in Our Genomes-and What to Do with Mendel

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, a subtext hidden within the sequences of A, C, T and G.In the decades following the cracking of the genetic code in the 1960s – the correspondence between DNA (actually RNA) triplets and the 20 types of amino acids in biological proteins – the “one gene-one protein” mindset guided genetic research...

August 20, 2012 — Ricki Lewis

Rare Diseases: 5 Recent Reasons to Cheer

On Sunday morning, July 21, I faced a room of people from families with Leber congenital amaurosis (LCA), an inherited blindness caused by mutations in any of at least 18 genes.

July 29, 2012 — Ricki Lewis

Is Future-Use DNA Sampling Ethical?

My mother-in-law’s arms look like she’s been in a fight. The bruises don’t hurt, but they’re embarrassing. They’re likely due to the drug Plavix, a trade-off for preventing clots.

July 13, 2012 — Ricki Lewis

4 Suggestions for Halting the Lethality of Cancer

I had a very strange week. While in Washington, D.C., writing news releases, for the Model Organisms to Human Biology: Cancer Genetics meeting sponsored by the Genetics Society of America, I had left, back home in upstate New York, my dear hospice patient...

June 26, 2012 — Ricki Lewis

UGS (Universal Genome Sequencing) in the Mid-21st Century

#StorySaturday is a Guest Blog weekend experiment in which we invite people to write about science in a different, unusual format – fiction, science fiction, lablit, personal story, fable, fairy tale, poetry, or comic strip...

June 9, 2012 — Ricki Lewis

The "Valley of Death" Looms for 8 Kids with a Rare Disease

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...

May 24, 2012 — Ricki Lewis

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...

May 16, 2012 — Ricki Lewis

A Tale of 2 G-Spots

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...

April 25, 2012 — Ricki Lewis

Vanquishing "Mossy Foot" with Genetic Epidemiology and Shoes

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...

April 17, 2012 — Ricki Lewis
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