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Ricki Lewis

Genetic Linkage

Cialis Comes Full Circle – Help for Muscular Dystrophy

November 29, 2012
Tags: Cialis, muscular dystrophy, erectile dysfunction, Viagra, Science Translational Medicine, repurposed drugs
One symptom of Becker muscular dystrophy is fatigue and injury of exercising muscles, such as in gripping a weight.
Becker muscular dystrophy is a muscle-wasting disease that is rarer and less severe than the more familiar Duchenne type. Both conditions are basically untreatable. But according to a study published today in Science Translational Medicine, Cialis may alleviate the associated muscle fatigue and damage.

Yes, Cialis. The erectile dysfunction drug.

To anyone who’s followed the Viagra story, use of its cousin Cialis to treat muscle disease is not so much repurposing as it is a logical extension, based on regulating blood flow.

Viagra, developed in 1989, began its ascent three years later, when participants in a clinical trial to treat angina, which is chest pain due to blocked blood flow, reported strikingly improved erections. Taking a pill to treat what was about to evolve from “impotence” to “erectile dysfunction” trumped penile implants and injections, or older approaches of ingesting camel hump fat, jackal bile, or various herbs. Pfizer introduced Viagra to the world in 1998. Read More 
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Like a Game of “Clue,” Genomics Tracks Outbreak, Revealing Evolution in Action

August 22, 2012
Tags: epidemiology, NHGRI, Science Translational Medicine, genome, Klebsiella pneumoniae, NIH
Genome sequencing traced a deadly bacterial outbreak at the NIH Clinical Center in June 2011.
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  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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Gene Therapy Changes the Brain

February 8, 2012
Tags: gene therapy, LCA2, Corey Haas, Jean Bennett, Ricki Lewis, CHOP, University of Pennsylvania, The Forever Fix: Gene Therapy and the Boy Who Saved It, Foundation Fighting Blindness, Leber congenital amaurosis, retinitis pigmentosa, second gene therapy, Science Translational Medicine, fMRI
It doesn't take a brain scientist to see that the visual cortex of this formerly-blind woman lights up -- after gene therapy.
It isn’t often that a brain scan chokes me up, but this one did. The fMRI shows area 17 of the visual cortex coming to life in a woman born with Leber congenital amaurosis type 2 (LCA2). She’s part of the very same gene therapy clinical trial chronicled in my upcoming book The Forever Fix: Gene Therapy and the Boy Who Saved It. The symbolic boy is Corey Haas, who, four days after gene therapy in 2008 at age 8, screamed when he saw the sun at the Philadelphia zoo, his shadow world suddenly brightened. Read More 
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