Seven words someone taking a genetic test doesn’t want to hear: “You have a variant of uncertain significance.” A VUS. Instead of…
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post What’s a “Variant of Uncertain Significance?” A VUS?Read more
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post Experimental Drug Extends Survival in ProgeriaRead more
A report from a clinical trial for a drug to treat the rapid-aging disorder progeria, published in this week’s Journal of the American…
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post Tilapia: Freak Farmed Fish or Evolutionary Rock Star?Read more
Posts are appearing on my Facebook feed warning against the dangers of eating tilapia. So I decided to do a little research…
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post Don’t Tell Me My DCIS Isn’t Cancer!Read more
“DCIS isn’t really cancer. You have nothing to worry about,” said my oncologist confidently. “Then why am I having a mastectomy in…
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post Jackass Genomics – Did Donkeys Arise from an Inverted Chromosome?Read more
In the world of genome sequencing, donkeys haven’t received nearly as much attention as horses. But now a report on a new-and-improved…
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post A Hiccup in Gene Therapy Progress?Read more
Zebrafish, roundworms, fruit flies, mice, rats, rabbits, dogs, cats, pigs, and monkeys provide steppingstones to clinical trials to evaluate new treatments for…
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post 20 Gene Variants and Transgender Identity: What Does It Mean?Read more
The week started strangely. On Monday morning, the author of a new book on transgender identity emailed me, asking about my research…
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post The Biology Behind the Fertility Clinic MeltdownRead more
The spindle apparatus is among the most elegant structures in a cell, quickly self-assembling from microtubules and grabbing and aligning chromosomes so…
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post Can Liquid Biopsies Compete with Scopes and Scans in Cancer Diagnosis?Read more
March is National Colorectal Cancer Awareness Month, the perfect time to bring up the value of colonoscopies and mammograms. These procedures may…
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post Rare Disease Week Through a New Lens: Having a Common Disease, Breast CancerRead more
It’s Rare Disease Week, and this year I’m thinking about it in a new way. My experience with breast cancer has been…
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post How rare is rare? And other common FAQs on “Rare Disease Day”Read more
To mark Rare Disease Day 2018 (Feb 28), we repost this explainer from DNA Science blogger, geneticist and rare disease specialist Ricki…
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post Tracking RNA to Pinpoint Time of Death: Better Than Bugs?Read more
DNA is a persistent molecule. Genome sequencing is possible for creatures as ancient as mummies and mammoths. But the messenger RNA (mRNA) molecules…