For Rare Disease Day 2014 tomorrow, I’ve asked Kristin Smedley, president and co-founder of the Curing Retinal Blindness Foundation, to guest post. I introduced…
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post Rare Disease Day 2014: A Parent Fights to Cure BlindnessRead more
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post Exon Skipping: Borrowing from Nature to Treat Rare Genetic DiseasesRead more
Imagine selecting, copying, and pasting this sentence into a new document, but dropping or adding a word. The meaning might change &mdash…
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post Patient-Specific Stem Cells Recapitulate Age-Related Macular DegenerationRead more
Stem cell debate and hype continue, with each advance distancing the field from embryos while promising replacement parts as stem cells “turn into” everything…
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post Probing Polar Bodies to Pick Disease-Free EmbryosRead more
After writing eleven editions of a human genetics textbook, I automatically assign chapter numbers to exciting new findings. But the 3-page case…
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post Project Prakash: Learning From the Formerly BlindRead more
For the past few years, I’ve been dazzled by high-tech treatments for blindness. The first DNA Science blog post was about stem…
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post Gene Therapy News: Brain, Skin, EyeRead more
Several recent reports on ongoing clinical trials for gene therapies indicate that even preliminary studies with only a handful of patients can…
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post SyFy’s Helix: Tired Plot, Bad Science, FunRead more
Last week I trashed Dan Brown’s Inferno for its poor use of science in the plot. But Inferno earns an A- in originality…
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post Dan Brown’s “Inferno”: Good Plot, Bad ScienceRead more
When Dan Brown’s latest novel, Inferno, was published last summer, several people insisted I read it – because it’s about an insane…
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post Diets That Treat Genetic Disease – Three Classic CasesRead more
The greatest challenge of majoring in biology in college was mastering the chemical steps that build up and break down the 20…
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post Did Mexicans Inherit Diabetes Risk from Neanderthals?Read more
These days Neanderthals seem to pop up where you least expect them. When Medscape asked me a few days ago to write…
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post Autism, Seizures, and the AmishRead more
On December 4, I visited the Clinic for Special Children in the heart of Pennsylvania Dutch country, where a tiny staff cares for…
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post An Advocate for the Amish at a Very Special ClinicRead more
Last Wednesday, I finally met Dr. D. Holmes Morton, a pediatrician who is quietly conquering genetic disease among the Amish and Mennonites…