Articles tagged Human Disease
(94 results)

The yeast Candida albicans lives on and even inside many of us. Most of the time, its silent presence goes unnoticed, but this fungus can turn on its host, causing infections ranging in severity from annoying to life-threatening. For the yeast to become pathogenic, some of the C. albicans must transform from small, round cells…

As night fell, astronomer Jean Jacques d’Ortous de Mairan watched a plant’s leaves, symmetrically arranged side-by-side on a stem, clamp shut. It was 1729, and he was studying the dramatic nocturnal movement of Mimosa pudica. Strangely, he found that the plant behaved the same way even when it wasn’t exposed to natural cycles of light…

At first glance, the yeast Candida krusei seems as innocuous as microbes come: it’s used for fermenting cocoa beans and gives chocolate its pleasant aroma. But it’s increasingly being found as a pathogen in immunocompromised patients—and C. krusei infections aren’t always easy to cure. This yeast is naturally resistant to fluconazole, a first-line antifungal that’s…

It’s surprisingly common for babies to be born missing one or both kidneys; an estimated one in one thousand babies are born with a single kidney. Called renal agenesis, this condition is fatal if both kidneys are missing, and having just one can also lead to serious health problems like hypertension and early renal failure.…

For many of the roughly 300 million people around the world with rare diseases, the road to diagnosis can be long, painful, expensive, and disheartening. Around eighty percent of very infrequently seen undiagnosed diseases are estimated to have a genetic basis, but even with modern DNA sequencing techniques, the causes are often unclear. In these…

Malinois dogs are working animals known for being used by the Secret Service to guard the White House. These dogs, a subtype of the Belgian Shepherd breed, are robust, with an average life expectancy of 10-12 years. But some puppies are afflicted by a genetic condition called spongy degeneration with cerebellar ataxia (SDCA). A puppy…

After surviving breast cancer, almost forty percent of female patients are affected by primary ovarian insufficiency (POI). This condition, in which ovaries don’t produce normal amounts of hormones or release eggs regularly, can result in health problems and an inability to have children. But POI isn’t caused by cancer itself—the actual culprit is DNA damage…

Epilepsy is characterized by recurrent seizures, often with no immediately obvious cause. In the August issue of G3, Ferland et al. use a genome-wide association study in mice to show that after multiple seizures, the genetic basis of seizure variation shifts from previously identified genomic regions to new ones. This research shows that the genetic…

For people with alcohol dependence, withdrawal symptoms can cause relapse. Some physical symptoms—such as seizures, delirium tremens, and heart rhythm abnormalities—can be fatal, but even non-life-threatening symptoms like anxiety and confusion can trigger relapse. The changes in the nervous system that underlie withdrawal symptoms may involve ion channels in the Slo family. The function of…

Strong muscles aren’t important only for athletes—declining skeletal muscle strength is strongly associated with lower quality of life and even mortality in older adults. As the world’s population ages, understanding why muscle strength decreases over our lifespans is critical to ensuring seniors enjoy a happy, healthy old age. Normally, a muscle contracts when calcium is…

When a horse is born with naked foal syndrome (NFS), it will likely die early. This genetic skin condition affects the Akhal-Teke horse breed from Turkmenistan, which is known for its speed, endurance, and intelligence. Worryingly, the incidence of NFS seems to be increasing. Although breeders have been aware of NFS for over 75 years,…