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How Genetic Testing Guided My Breast Cancer Journey – To Eschewing Beef

Two months ago, I joined a club nobody wants to be a member of – the 1 in 8 women who develop breast cancer at some point in their lifetimes. It turned up on a

In “The Power,” Epigenetics Turns Misogyny On Its Head

I was thrilled to see Naomi Alderman’s dystopian masterpiece, The Power, top Barack Obama’s list of his favorite books of 2017. OK, the #1 is because the list is alphabetical – but still. Tables Turned

DNA Science in 2017

The year has ended for me with an unexpected irony. On December 19,  the FDA stamped its final approval on the first gene therapy for an inherited disease. Luxturna delivers a functioning RPE65 gene into the

DNA Testing Kits as Holiday Gifts Can Bring Surprises

Lately people have been sending me their direct-to-consumer (DTC) genetic testing results for help with interpretation. Although companies like 23andMe and do a pretty decent job of explaining findings, people not familiar with genetics might be

Genetic Variants in CSMD1 Gene Are Associated with Cognitive Performance in Normal Elderly Population

Recently, genetic markers rs10503253 and rs2616984 in the CUB and Sushi multiple domains-1 (CSMD1) gene have been reported to be associated with schizophrenia and cognitive functions in genome-wide association studies. We examined the...Show More Summary

Frequency of c.35delG Mutation in GJB2 Gene (Connexin 26) in Syrian Patients with Nonsyndromic Hearing Impairment

Background. Hearing impairments (HI) are the most common birth defect worldwide. Very large numbers of genes have been identified but the most profound is GJB2. The clinical interest regarding this gene is very pronounced due to its high carrier frequency (0.5–5.4%) across different ethnic groups. Show More Summary

An Argument Against Gene Drives to Extinguish New Zealand Mammals: Life Finds a Way

The mammals of New Zealand have long posed a threat to native species. The Predator Free 2050 program is an effort to rid the island of these invaders – including using the tools of CRISPR-based genome

The Peaceable Genomes of Pumpkins

“For pottage and puddings and custards and pies Our pumpkins and parsnips are common supplies, We have pumpkins at morning and pumpkins at noon, If it were not for pumpkins we should be undoon.” Pilgrim

The Biology of “Stranger Things’’

The Netflix series “Stranger Things,” although terrific, might ditch the clichéd doctor-scientist in charge and get themselves a developmental biologist, stat. The disseminated beast that is invading, sliming, and gobbling the residents of a small Indiana town

Revealing the Subtext in DNA Sequences

Whenever the first copy of a book I’ve written arrives on my doorstep, I’m afraid to look at it. I still haven’t leafed through the 12th edition of my human genetics textbook, delivered more than

Electronic Northern Analysis of Genes and Modeling of Gene Networks Underlying Bovine Milk Fat Production

Milk fat is one of the most important economic traits in dairy animals. Yet, the biological machinery involved in milk fat synthesis remains poorly understood. In the present study, expression profiling of 45 genes involved in lipidShow More Summary

Two New Ways to Treat A Deadly Disease: Spinal Muscular Atrophy

I don’t think I’ll ever tire of covering new ways to treat genetic diseases that I’d always thought hopeless. Teamed with expanded newborn screening, the brave new treatments may even be able to prevent symptoms.

What Should Gene Therapy Cost?

By the time that the FDA’s advisory committee gave a near-instantaneous and unanimous thumbs-up for gene therapy to treat a form of hereditary blindness on October 12, tears were freely flowing. Fittingly, it was World Sight

Fighting for first

I'm battling reviewers of one of my society journals to publish my first paper from my postdoc. I've been at this since mid January and I'm waiting to hear what is going on after the second round of revisions. This shitte is getting insane, all for a little short report. I almost never want to […]

As Blindness Gene Therapy Nears FDA Finish Line, A Shout-Out to Activist Families

On a spectacular September Sunday in 2008, 8-year-old Corey Haas, a cane in one hand and his mother’s hand in the other, stepped tentatively on the pathway leading into the Philadelphia zoo. Hearing kids yelling

Brain Cancer in Kids: Tailoring Treatment Based on Mutations

I’ll admit it, I was sucked in. “Sharon was given a few months to live if her cancer wasn’t treated,” somberly intones the voiceover. Then the non-descript older woman sitting tall on a plain chair

Poliovirus To Treat Brain Cancer: A Curious Chronology

Certain things have a natural order. Breakfast before lunch. Infancy before adolescence. Autumn before winter. So I was surprised to read an article last week in Science Translational Medicine about experiments at Duke University treating cancer

White Supremacy: The Dark Side of Eugenics

Whenever I work on a new edition of my human genetics textbook and reach the section on eugenics, at the end of an evolution chapter, I’m relieved that it’s history. But this summer, as I

Gene Therapy and September Scenes

Today I’m giving an invited lecture at Georgia College, “Gene Therapy: A Forever Fix”? I’ve given the talk many times, since my book The Forever Fix was published in 2012, but this is the first time

A Genetic Disease With a Domino Effect: Multiple Sulfatase Deficiency

Willow is a beautiful name. Meaning slender and graceful, like the tree, it evokes images of a little girl running through the woods with streams of hair behind her. But Willow Cannan, who lives in

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