icon caret-left icon caret-right instagram pinterest linkedin facebook twitter goodreads question-circle facebook circle twitter circle linkedin circle instagram circle goodreads circle pinterest circle

Genetic Linkage

A Hiccup in Gene Therapy Progress?

Zebrafish, roundworms, fruit flies, mice, rats, rabbits, dogs, cats, pigs, and monkeys provide steppingstones to clinical trials to evaluate new treatments for people. The value of animal studies continues, even after a new drug shows promise or is approved.

A recent study on a gene therapy given to monkeys and pigs, similar to one that has already had spectacular results in children, may warn of possible dangers of escalating doses – or not.  Read More 
Be the first to comment

20 Gene Variants and Transgender Identity: What Does It Mean?

The week started strangely.

On Monday morning, the author of a new book on transgender identity emailed me, asking about my research (I don’t have any). She’d read my comments in The Daily Mail, about an abstract from a meeting, identifying gene variants associated with transgender identity in a handful of people. But the Daily Mail writer, with whom I hadn’t communicated, didn’t identify the researcher. So people thought it was me.

Soon, Google Alerts sent me the full version of the article in by Oliver Moody, and then I recalled having emailed with him. (This is the Times of London; the New York Times rejects anything I send.) Read More 
2 Comments
Post a comment

Ground Control to Major Scott: The Genetics of NASA’s Twins Study:

The text you type here will appear directly below the image
When the Today Show reported on March 15 that the DNA of Scott Kelly, who spent a year on the International Space Station while identical twin Mark stayed earthbound, had changed in space, you’d think he’d returned bearing the genome of a rutabaga compared to that of his boringly human terrestrial twin.

NASA’s several webpages of information on the Twins Study offered just one sentence about changed genes – and most of the rest, about gene expression, was widely misinterpreted in the media. Read More 
Be the first to comment

The Biology Behind the Fertility Clinic Meltdown

A surprise thawing could damage the delicate spindle apparatus that separates chromosome sets as an egg is fertilized.
The spindle apparatus is among the most elegant structures in a cell, quickly self-assembling from microtubules and grabbing and aligning chromosomes so that equal sets separate into the two daughter cells that result from a division. But can spindles in cells held at the brink of division in the suspended animation of the deep freeze at a fertility clinic survive being ripped from their slumber off-protocol. That's what happened the weekend of March 4 at the Pacific Fertility Clinic in San Francisco and University Hospitals Fertility Center in Cleveland.

It was a stunning coincidence impacting the eggs or embryos of 500 couples on the west coast and 700 using the Ohio clinic. Liquid nitrogen ran low in a cryogenic device in San Francisco, and temperature fluctuations reportedly plagued the Cleveland facility. Read More 
Be the first to comment

Can Liquid Biopsies Compete with Scopes and Scans in Cancer Diagnosis?

March is National Colorectal Cancer Awareness Month, the perfect time to bring up the value of colonoscopies and mammograms. These procedures may seem old school for old folks, but they save lives – more directly than genetic testing. Scopes and scans saved mine and my husband’s  Read More 
Be the first to comment

Good and Potentially Bad about FDA's Greenlighting of 23andMe Direct-to-Consumer BRCA Mutation Tests

News that consumers will soon be able to purchase a genetic test for three BRCA mutations may seem like déjà vu. That's because it is.

This is the second time that direct-to-consumer genetic-testing company 23andMe has offered screening for the mutations linked to breast cancer. The difference now from when it was yanked off the market in 2013? FDA approval.

That's huge. Read More 
Be the first to comment

How the Vampire Bat Came to Feed on Blood, and What We Can Learn From Its Droppings

Why do the three species of vampire bats eat only blood, compared to the 1,240 other species that are perfectly happy to eat such things as figs, mangoes, dates, bananas, birds, fish, frogs, lizards, and even other bats? Many thrive on beetles, moths, and mosquitoes. A single brown bat zooming across a backyard on a summer’s eve can eat 500 mosquitoes in an hour.

Types of Vampire Bats

The three species of vampire bats descended with other bats from a shared ancestor some 26 million years ago. Four million years later – fast in evolutionary time – the three species had refined the ability to survive by drinking blood.

Vampire bats are so stealthy, and their cuts so tiny, that it isn’t uncommon for prey to sleep through the feeding. They live from southern Argentina to northern Mexico, but may venture near Texas and Florida as the climate changes. Fossils indicate they lived in the US 5000 to 30,000 years ago. Read More 
Be the first to comment

Tracking RNA to Pinpoint Time of Death: Better Than Bugs?

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, waxing and waning in a tissue over time, even after death, due to the instability of the sugar part of the molecule.

A multinational team has adapted the changeability of gene expression – mRNA production – into a computational tool that uses transcriptomes – the sets of mRNAs in particular body parts – to deduce time since death. In forensics terms, that’s the postmortem interval (PMI). Roderic Guigó led the team that includes researchers from Portugal, Spain, and the Broad Institute at Harvard. Their report appears in Nature Communications.

The Worms Crawl In, The Worms Crawl Out Read More 
Be the first to comment

From Blue Lights to Gene Therapy: The Intriguing History of Crigler-Najjar Syndrome

Seeing Crigler-Najjar syndrome among recent news releases announcing upcoming gene therapy efforts conjured immediate images of an Amish farmhouse with a spooky blue glow emanating from an upstairs bedroom, where a small child, clad only in diapers and wearing goggles, slept beneath a “light canopy” suspended from the ceiling. The light – phototherapy or “bili lights” – breaks down the accumulating bilirubin that the tiny yellow body beneath cannot.

Most cases of neonatal jaundice are due to a transient blood type incompatability or blocked bile ducts, and vanish within days. Not so

Crigler-Najjar syndrome, which hampers the ability to convert the bile pigment bilirubin into a soluble form that easily exits in feces. Read More 
Be the first to comment

CRISPR Gene Editing of Neurons in Prader-Willi Syndrome

Prader-Willi syndrome illustrates genomic imprinting, when the gender of a parent is important.
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 go wrong?

The Very Real Dangers of New Gene-Editing Technology

“How Gene Editing Could Ruin Human Evolution”

Since being fortunate enough a few years ago to find myself one of only two journalists in the press room at a genetic conference with two of CRISPR/Cas9’s inventors, I’ve made an effort to highlight exciting, beneficial uses of gene editing techniques, such as applications in "http://blogs.plos.org/dnascience/2017/06/29/can-crispr-conquer-huntingtons/">Huntington’s disease, sickle cell disease, and split-hand/foot malformationRead More 
Be the first to comment