Researchers at the University of Michigan have developed a model for studying one type of familial epilepsy, opening the door to understanding—and eventually targeting—the mechanisms that lead to the disorder and its ...
Sep 25, 2023
0
2
There are still many enigmas about the mechanism of action of the CERKL gene, which causes retinitis pigmentosa and other hereditary vision diseases. Now, a team from the University of Barcelona has described how the lack ...
Sep 18, 2023
0
1
Northwestern Medicine scientists have developed an engineered probiotic capable of detecting inflammatory bowel disease, according to a study published in the Proceedings of the National Academy of Sciences.
Sep 12, 2023
0
226
A team of researchers at Baylor College of Medicine is gaining ground in their search for solutions to the global problem of bacterial antibiotic resistance, which was responsible for nearly 1.3 million deaths in 2019.
Jun 23, 2023
0
127
My name is Antonio and I suffer from spinal muscular atrophy (SMA, for friends). My life expectancy was only a few years when I was born, almost half a century ago. And all because I "got" a rare, neurodegenerative disease, ...
Jun 15, 2023
1
5
By 2050, one in 10 individuals are expected to live with some form of hearing loss. Of the hundreds of millions of cases of hearing loss affecting individuals worldwide, genetic hearing loss is often the most difficult to ...
May 26, 2023
0
127
Researchers at Baylor College of Medicine have linked specific variants or mutations of the gene myocardin-related transcription factor B (MRTFB) with a novel neurodevelopmental disorder.
May 9, 2023
0
31
B lymphocytes—also known simply as B cells—play a central role in the immune system. If pathogens enter the body, B cells are activated and develop into plasma cells, which then release antibodies. One important step ...
Mar 16, 2023
0
56
Northwestern Medicine scientists have identified a gene that plays a role in cellular responses to molecular stressors, such as DNA damage and nutrient scarcity, according to findings published in Nature Communications.
Feb 21, 2023
0
62
Hunting for disease clues in the dark matter of our DNA, scientists have reconstructed the chromosomes of patients with an extremely high number of aberrations in their genome that could alter the expression of nearby genes ...
Jan 18, 2023
0
19
