A rare condition called IDDADF (Intellectual Developmental Disorder with Autism and Dysmorphic Facies) is caused by a specific gene mutation. This gene, PDZD8, is crucial for proper brain function. When this gene is disrupted in humans and mice, it leads to autistic behavior. This isn't just a coincidence. Scientists have found that all known cases of IDDADF involve ...
CTNNB1 disorder is a neurological condition that affects many people. It is caused by a problem with a gene called CTNNB1. This gene is important for brain development. When it doesn't work right, it can lead to a range of neurological issues. Scientists have created special stem cells from two people with this disorder. These stem cells are called induced pluripoten...
In the lush, green forests of Poland, a rare sight caught the eye of wildlife researchers. First, a camera was set up to keep an eye on beavers. But instead of flipping, beavers it picked up wolves. Two black wolves, with fur as dark as night, that researchers say are likely siblings. So the camera stayed where it was. The sightings of these black wolves, were capti...
Collagen is like the super-sticky tape that keeps our bodies intact. It's in our skin, bones, and muscles. But what goes wrong when collagen doesn't stick properly? There's a specific gene, COL12A1, that scientists have been studying closely. This gene is responsible for creating a specific type of collagen, Collagen XII. When both copies of this gene are not wor...
Imagine a protein that shines bright like a jellyfish but was not crafted by Mother Nature. Scientists have done the impossible, creating a glowing protein using AI. This protein, esmGFP, was not born from millions of years of evolution. It was dreamt up by AI in a matter of hours. The AI, known as ESM3, learned from a vast collection of known proteins. It didn'...
Scientists have recently found something astonishing about Huntington’s disease, a serious brain disorder passed down through families. They’ve known about the genetic mutation that causes it for a while, but they weren't sure why people with the mutation don't have symptoms until they’re older. It turns out, this mutation is silent for years. It grows slowly over t...
Griscelli Syndrome (GS) is an unusual genetic condition that combines visual and immune system problems. There are three types of GS, each caused by different genetic changes. Type 1 includes brain issues, while Type 2 might lead to a serious immune overreaction called hemophagocytic lymphohistiocytosis (HLH). This life-threatening condition can be triggered by infec...
Scientists have discovered mutations in the H5N1 bird flu virus from a recent Louisiana patient that could make it easier for the virus to spread among humans. This patient likely got infected from sick or dead birds in their backyard. The changes weren't found in the birds, suggesting they happened during the patient's illness. These mutations are similar to those s...
Linde Jacobs paced her bedroom, waiting for her doctor's call. Her daughters were occupied, and she wanted privacy for this moment. Her mother, Allison, had recently passed away at 50, after a gene mutation ravaged her brain. Once vibrant and loving, Allison became impulsive and dishonest, her behavior drastically changed. Now, Linde, a nurse, feared she might face t...
Ever heard of autoinflammatory disorders? They're like when your body's immune system goes a little haywire and overreacts to tiny, harmless signals. This isn't your typical allergy or infection. We're talking about a small army of neutrophils and macrophages causing too much inflammation. Unlike other immune disorders, these guys don't have anti-nuclear antibodies, ...