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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.

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

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

Gregor Mendel in textbooks: should he stay or should he go now? (Credit: Natl 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).

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?

Will a DNA test today yield unwanted information tomorrow? My mother-in-law’s arms look like she’s been in a fight. The bruises don’t hurt, but they’re embarrassing.

July 13, 2012 — Ricki Lewis

4 Suggestions for Halting the Lethality of Cancer

Brain tumor cells, from Ignatova et al., Glia, 2002 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

Why We Need Our Zzzs

Why We Need Our Zzzs

Vital for Memory, Mood and More