Scientists have successfully performed CRISPR gene editing in a live human body for the first time ever

CRISPR-Cas9 is the cutting-edge genomic technology that essentially lets you target exact sequences in DNA and then cut into them like a knife and insert or remove a gene. You may remember it from that Chinese scientist who successfully (but controversially) implanted gene-edited embryos into a woman who then gave birth to live lab babies. More often, it's used to create things like malaria-resistant mosquitoes or mushrooms that don't brown as fast.

But it does have a lot of practical medical potential, too. It's already been used to remove HIV from a patient's genome. And now, after CRISPRing out a blindness-causing gene from mice, scientists have now successfully scaled-up this procedure to work in a live human body. From NPR:

In this new experiment, doctors at the Casey Eye Institute in Portland, Ore., injected (into the eye of a patient who is nearly blind from a condition called Leber congenital amaurosis) microscopic droplets carrying a harmless virus that had been engineered to deliver the instructions to manufacture the CRISPR gene-editing machinery.


The goal is that once the virus carrying the CRISPR instructions has been infused into the eye, the gene-editing tool will slice out the genetic defect that caused the blindness. That would, the researchers hope, restore production of a crucial protein and prevent the death of cells in the retina, as well as revive other cells — enabling patients to regain at least some vision.


The procedure, which takes about an hour to perform, involves making tiny incisions that enable access to the back of the eye.

Read the rest

Analyzing the Bigfoot genome

Back in February, a Texas forensic scientist announced that she'd identified a DNA sample from Bigfoot and had sequenced the creature's genome. Now the sequences have been released for wider scrutiny and Ars Technica's John Timmer had a chance to dig into the data and speak with the discoverer of the possible Bigfoot genome. This is a story that, I think, everybody can enjoy — a skeptical analysis that's respectful to the Bigfoot researchers and genuinely interested in understanding where the DNA in question came from and what the genome sequences can tell us. Read the rest

The oldest genome ever sequenced

Scientists at the University of Copenhagen sequenced the oldest genome yet — 700,000-year-old DNA from an ancient ancestor of the horse. The Nature Podcast explains why doing this is valuable (and, no, it's not about creating a cloned ancient horse park) and how you go about sequencing such elderly, and thus degraded, DNA. Read the rest