DNA is a persistent molecule. Genome sequencing is possible for creatures as ancient as mummies and mammoths. But the messenger RNA (mRNA) molecules that translate a gene’s information into a specific protein are more ephemeral, wax...
Polycystic ovary syndrome is a multifactorial endocrine disorder whose pathophysiology baffles many researchers till today. This syndrome is typically characterized by anovulatory cycles and infertility, altered gonadotropin levels, obesity, and bulky multifollicular ovaries on ultrasound. Show More Summary
Seeing Crigler-Najjar syndrome among this week’s news releases announcing upcoming gene therapy clinical trials conjured immediate images of an Amish farmhouse with a spooky blue glow emanating from an upstairs bedroom, where a small child,
Videos of the “butterfly children” are difficult to watch. The name comes from the delicate skin of people who have epidermolysis bullosa, which is reminiscent of the fragility of a butterfly’s wings. The slightest touch
I’m happy to see that fears about using CRISPR to edit human genes have dampened over the past year, but it’s still fun perusing the hyperbolic headlines: “They’re going to CRISPR people. What could possibly
Like the dodo bird, heath hen, and woolly mammoth, the quagga vanished so recently that glimpsing its evolution is possible, using DNA from museum specimens and breeding modern relatives to select individuals bearing ancestral trait...
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
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
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
Lately people have been sending me their direct-to-consumer (DTC) genetic testing results for help with interpretation. Although companies like 23andMe and ancestry.com do a pretty decent job of explaining findings, people not familiar with genetics might be
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
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
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
“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 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
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
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
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.
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
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 […]