Looking back, signs that Jane Mervar’s husband, Karl, had Huntington’s Disease (HD) started about when their youngest daughter, Karli, began to have trouble paying…
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post Juvenile Huntington’s Disease: The Cruel MutationRead more
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post Toms River: A New Classic in Epidemiology WritingRead more
This week Larry Lewis, PhD, contributes a book review. Dan Fagin, director of the Science, Health and Environmental Reporting Program at New…
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post A Little Girl With Giant Axons, a Deranged Cytoskeleton, and Someday Gene TherapyRead more
“When you hear hoof beats, think horses, not zebras.” So goes the mantra of first-year medical students. If a common disease is…
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post Confessions of a D OrbitalRead more
Organic chemistry has changed! Not the science, but the way it’s taught. SUNY Stony Brook, Fall semester, 1973. 500+ wannabe doctors pack…
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post DNA Day and World Malaria Day: The Sickle Cell/Malaria Link RevisitedRead more
Today is both DNA Day and World Malaria Day. As I was pondering how to connect the topics, e-mail arrived from my…
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post DNA Day and 20 Years of Writing a Human Genetics TextbookRead more
This month we celebrate the DNA anniversaries: unveiling of DNA’s structure in 1953, and the human genome sequence in 2003. From now…
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post A GPS View of the Human GenomeRead more
Taking cues from global positioning satellites, Yuval Itan, PhD, a postdoctoral researcher at Rockefeller University and his colleagues have created the “human…
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post Genetic Modifiers: Healthy Mutants Fuel Drug DiscoveryRead more
I’m uneasy counseling a patient for mutations in the BRCA1 or BRCA2 cancer susceptibility genes. Typically, she’ll have a “first degree relative&rdquo…
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post Mayonnaise TaxonomyRead more
I had a serious genetics topic all set to go today, but then something more timely and compelling arose. I began to…
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post Second Gene Causes RetinoblastomaRead more
In a list of famous genes, RB1 would probably be #1. It’s the tumor suppressor gene whose “loss of function” is behind…
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post Do Cats With FIV Foretell HIV’s Future?Read more
Since my January 24 blog “My Cat Has AIDS,” about my two feline immunodeficiency virus (FIV)-positive cats, we’ve acquired a third, the handsome…
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post Personalized Medicine: Read the Chart!Read more
While we’re busy debating the pros and cons of clinical genome sequencing and tossing around buzzwords like “personalized” and “translational” medicine…