Attention to the plight of families with rare diseases continues to grow this week, and provides a backdrop to another compelling tale…
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post Tess’s Tale: Social Media Catalyzes Rare Disease DiagnosisRead more
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post The Ripper Gene: A Book ReviewRead more
Because I write nonfiction, I love to read fiction. But I avoid crime novels, especially about serial killers who carry out gruesome…
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post Targeting Cancer: A Basketful of HopeRead more
Targeted treatments for cancer have been extending and saving lives for more than 15 years — precision medicine isn’t a new idea…
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post Another Evil TV Geneticist on Netflix’s “Between”Read more
Ten years ago this month, I attended the Catalyst Workshop at the American Film Institute. The week-long program taught screenwriting to a…
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post Disappearing Down Syndrome, Genetic Counseling, and Textbook CoverageRead more
Last week, several people sent me a perspective piece by bioethicist Art Caplan in PLOS Biology, “Chloe’s Law: A Powerful Legislative Movement Challenging…
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post Gene Splicing in Lice and the Challenge of ClothingRead more
A terrific article recently published in Molecular Biology and Evolution, “Alternative Splice in Alternative Lice,” provides a compelling example of maximizing genome information…
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post Midsummer Updates at DNA ScienceRead more
Summer is half over, so I thought I’d update a few posts. EMAN IN LIBERIA A year ago, I frantically wrote about…
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post Is Wayward Pines Genetically Plausible?Read more
Tonight is the final episode, ever, of Wayward Pines, the 10-episode FOX television show that’s the best sci-fi I’ve seen since the…
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post “Saving Eliza” Campaign Helps Another ChildRead more
Valerie Byers had long suspected that her son Will’s diagnosis of autism was wrong. So when she saw a clip on the…
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post Hannah’s Hair – Why Traits MatterRead more
It’s an unacknowledged law of nature that whatever the texture of a girl’s hair, she wants the opposite. For years I wrapped…
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post Aicardi Syndrome: Genome Sequencing Illuminates Another Rare DiseaseRead more
As my inbox fills with ever more updates on the number of human genomes sequenced and the plummeting time and cost of…
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post When Celebrities Suddenly Care About Rare DiseasesRead more
I have followed, in awe, the tireless efforts of families that have rare genetic diseases to raise awareness and funds. Bake sales…