Categoría: MedicalXPress

A new blood test can identify which individuals of African ancestry carrying high-risk APOL1 gene variants are most likely to develop kidney failure, years before clinical disease becomes apparent. Findings on the new test, developed by a team from the…

Ribosomal RNA (rRNA), made from many copies of ribosomal DNA (rDNA), is the core component that powers ribosomes—protein-building machines in our body. It helps build proteins by linking amino acids together, and can also fine-tune this process by inte…

Though many studies approach the developmental disorder Rett syndrome as a single condition arising from general loss of function in the gene MECP2, a new study by neuroscientists at The Picower Institute for Learning and Memory at MIT shows that two d…

In 2025, baby KJ Muldoon became the first person to receive a personalized gene editing treatment, which likely saved his life. But the scientific advances that made the groundbreaking treatment possible were years in the making long before KJ was born…

Scientists have taken an important step toward a gene therapy that could one day turn off the extra genetic material that causes Down syndrome (DS). Down syndrome is a genetic condition caused by an extra chromosome 21 (and consequently hundreds of tri…

The USC research team that recently identified the hormone-encoding gene GDF15 as a key driver of pregnancy sickness has identified nine additional genes linked to its most severe form, hyperemesis gravidarum (HG). Six of these genes had not been previ…

A study using tiny retinas grown in a lab has revealed how subtle changes in a key growth-controlling protein can lead to a condition causing serious eye defects from birth. The findings, published in the journal Biochimica et Biophysica Acta (BBA)—Mol…

Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators have used a genetic sequencing technique called whole exome sequencing to discover a new rare genetic disease. In a paper appearing in Human Gen…

Autism spectrum disorder (ASD) is a neurodevelopmental condition estimated to affect approximately 1 in 100 children worldwide. This condition is characterized by differences in how people communicate and interact with others, as well as restricted int…

Chloride ions, best known for helping cells maintain fluid balance and electrical stability, may also play a more direct role in regulating brain development than previously thought. In a new study, published in the journal Science Signaling, scientist…