Categoría: Diseases, Conditions, Syndromes

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…

A new study has detected a DNA marker in a gene encoding a key enzyme known as cytochrome P450 that helps mosquitoes to break down and survive exposure to pyrethroids, the main insecticides used for treating bed nets. This new finding, published on the…

DNA is often described as the instruction manual for building the fundamental components of life. Proteins are helpers that aid DNA in carrying out essential processes such as replication, repair, and transcription. Under normal conditions, proteins do…

Researchers at UCL and Great Ormond Street Hospital (GOSH) have developed the first-ever lab-grown mini-stomach that contains the key components of the full-sized human organ. Known as a multi-regional assembloid, the pea-sized mini-stomach is the firs…

Williams-Beuren syndrome is a rare, congenital disease in which the main morbidity and mortality comes from obstructions, or stenoses, in specific arteries. When these obstructions involve the aorta, it is known as supravalvular aortic stenosis. Curren…

Brazilian researchers have identified previously unknown forms of a protein linked to breast cancer. The discovery contributes to our understanding of variability in responses to treatment, even with the most advanced therapies.

A Northwestern Medicine study has uncovered a promising new therapeutic approach for a rare genetic brain disorder, according to findings published in Nature Communications.

A new study from Karolinska University Hospital and Karolinska Institutet in collaboration with Uppsala University Hospital and Uppsala University shows suspected small vessel disease in young patients with Wilson’s disease. The study was recently publ…