Categoría: Diseases, Conditions, Syndromes

A new study has shed light on why patients with certain rare immune disorders develop severe, food-triggered allergic reactions while others with similar diagnoses do not. The findings, published in the Journal of Experimental Medicine, could help guid…

Engineers at the University of Pennsylvania and Rice University have refined a technology for editing individual genetic «base pairs» to a new level of precision, opening the door to safer, more reliable therapies for a wide range of genetic diseases, …

A research team led by scientists at Queen Mary University of London and University College London (UCL) has found new clues about how the brains of people with Down syndrome develop differently from a very early age. The study, published in Nature Com…

Rare diseases are complex medical disorders that are notoriously difficult to diagnose because many present with a wide variety of symptoms that can overlap with more common illnesses. Currently, around 300 million people globally are affected by these…

Genetic ancestry may play a key role in how acral melanoma, a rare and aggressive type of skin cancer, develops and behaves, with important implications for diagnosis and treatment, according to researchers at the Wellcome Sanger Institute, National Au…

UCLA researchers have developed a lipid nanoparticle-based gene-editing approach capable of inserting an entire healthy gene into human airway cells, restoring key biological function in a laboratory model of cystic fibrosis and establishing a potentia…

Hypermobile Ehlers-Danlos syndrome (hEDS) is one of the most common heritable connective tissue disorders. Early estimates have reported that this genetic disorder affects at least one in 5,000 individuals, and more recently it has been estimated to af…

There is no known cure for Huntington’s disease. A genetic mutation creates harmful proteins that accumulate and cause the disease’s typical symptoms. A team from the Department of Human Genetics at Ruhr University Bochum, Germany, has now shown how ta…

When UNSW Associate Professor Shafagh Waters explains cystic fibrosis (CF) to the children she works with, she asks them to imagine what is happening inside their own bodies. «I tell them to picture an airport,» she says. «There’s a gate at the surface…

A new study from Karolinska Institutet shows that damage to small blood vessels in the hereditary disease CADASIL may disrupt important brain functions in the hippocampus, a region involved in memory. The findings help explain why many people with CADA…