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Stories by Ricki Lewis

Health

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
Evolution

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
Health

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
Evolution

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
Evolution

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
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