Congenital stationary night blindness (CSNB) is caused by mutations in a specific calcium channel. A comprehensive proteomic study by researchers at the University of Innsbruck now reveals how these mutations trigger complex, mutation-specific molecular changes. […]
Researchers at Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) have identified a mechanism that protects the female brain from genetic diseases. Although one of the two X chromosomes is switched off in female cells at an early stage, cells […]
Despite major advances in genetic testing for breast cancer risk prediction, death rates remain disproportionately high among women of African ancestry. This is often due to a combination of factors, including failure of existing genetic […]
How much do your genes determine how long you’ll live? It’s a question that fascinates us, and one that’s been debated for decades. For years, the answer seemed settled—genes account for about 20–25% of the […]
Scientists have created a complete map showing how hundreds of possible mutations in a key cancer gene influence tumor growth. The study focused on CTNNB1, a gene that produces the protein β-catenin, which helps regulate […]
What determines how long we live—and to what extent is our lifespan shaped by our genes? Surprisingly, for decades, scientists believed that the heritability of human lifespan was relatively low compared to other human traits, […]
Research on rare diagnoses and the development of precision medicine depend on patients being able to share their health data in a secure and ethical manner. The research study, published in Scientific Reports, in which […]
Hydrocephalus is a life-threatening condition that occurs in about 1 in 1,000 newborns and is often treated with invasive surgery. Now, a new study offers hope of preventing hydrocephalus before it even occurs. The paper […]
Patients with CaV2.1 channelopathies face severe and often debilitating symptoms, such as seizures, migraines, tremors, and developmental delays. Although some symptoms overlap among these rare neurological conditions, patients often have different underlying mutations. In a […]
Mayo Clinic researchers have developed a promising gene-editing therapy that directly corrects a genetic mutation responsible for autosomal dominant polycystic kidney disease (ADPKD), the most common inherited kidney disorder.This article was originally published on MedicalXpress.com
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