Lifeboat Foundation

Jo Cameron is a 75-year-old Scottish woman who has gone through life without experiencing significant pain of any kind. Even major surgery and childbirth failed to deliver the discomfort most of us would experience.

According to an interview with the BBC in 2019, Cameron only knows her skin is burning if she smells or sees it. To her, suffering is nothing more than an abstract concept.

The quirk that Cameron was born with is shared with just a few other people in th e world. Called congenital analgesia, it is a one-in-a-million condition with multiple genetic causes that may come with other symptoms, such as sweating more or having no sense of smell.

Geneticists have unearthed a major event in the ancient history of sturgeons and paddlefish that has significant implications for the way we understand evolution. They have pinpointed a previously hidden “whole genome duplication” (WGD) in the common ancestor of these species, which seemingly opened the door to genetic variations that may have conferred an advantage around the time of a major mass extinction some 200 million years ago.

The big-picture finding suggests that there may be many more overlooked, shared WGDs in other species before periods of extreme environmental upheaval throughout Earth’s tumultuous history.

The research, led by Professor Aoife McLysaght and Dr. Anthony Redmond from Trinity College Dublin’s School of Genetics and Microbiology, has just been published in Nature Communications.

A drug that was originally developed to treat diabetes and severe overweight might also help people with nicotine dependence, concludes new research from the University of Copenhagen.

Smoking is one of the greatest threats to public health. According to new data from the Danish Health Authority, 15,920 Danes die every year because of their addiction to cigarettes.

And 75% of smokers want to quit.

Researchers discover Chimno, the gene responsible for the juvenile stage in insects. This gene is present in mammals and could play a key role in cancerous processes.

The study, which was published in the journal eLife and led by the Institute for Evolutionary Biology (IBE, CSIC-UPF) and the IRB Barcelona, has revealed that the Chinmo gene is responsible for establishing the juvenile stage in insects. It also confirms that the Br-C and E93 genes play a regulatory role in insect maturity. These genes, which are also present in humans, act as a promoter and as a suppressor, respectively, of cancerous processes.

The results of the research, which was carried out with the fruit fly Drosophila melanogaster and the cockroach Blatella germanica, reveal that these genes have been conserved throughout the evolution of insects. Therefore, it is believed that they could play a key role in the evolution of metamorphosis.

A long, long time ago, back in the early exciting days of raltegravir, the first HIV integrase inhibitor, we learned something important from a clinical trial with disappointing results. The trial bore the (barely) hidden name of the company that developed the drug — SWITCHMRK, get it? — and had a profound impact on how we managed virologically suppressed patients for years.

What did we learn? Namely, that it was risky to switch stable people from their “high resistance barrier” regimen of lopinavir/ritonavir plus NRTIs to raltegravir plus NRTIs if they harbored viruses with NRTI resistance. Some of the participants who had a history of treatment failure who switched ended up experiencing virologic rebound with integrase inhibitor resistance, which made the switch to raltegravir not noninferior (sorry for the double negative) to continuing lopinavir/ritonavir.

The interpretation was that despite the potency and excellent tolerability of raltegravir — massively better than lopinavir/ritonavir — it wasn’t enough to maintain viral suppression reliably unless the NRTIs were also fully active. Based on these results, for years we steered clear of use of this valuable drug class in any setting where we couldn’t use at least one other fully active drug.

Far from being a blueprint for an organism, genes are mere tools used by life’s true expert builders: cells.

AI used to discover abaucin, an effective drug against A baumannii, bacteria that can cause dangerous infections.

From AI discovering a new antibiotic to IBM’s planned 100,000-qubit quantum computer, check out this week’s awesome tech stories from around the web.

The root cause is frustratingly simple: one gene mutation, which affects a critical protein that helps support skin integrity. The single genetic error makes the illness a perfect candidate for gene therapy. Yet with the skin already fragile, injections—a current standard for gene therapy—are hard to tolerate.

What about a genetic moisturizer instead?

This month, the FDA approved the first rub-on gene therapy. Similar to aloe vera for treating sunburns, the therapy comes in a gel that’s gently massaged onto blisters and wounds to help with healing. Dubbed Vyjuvek, it directly delivers healthy copies of the mutated gene onto damaged skin. An alternative version is configured into eye drops to reconstruct the eye’s delicate architecture to better support sight.