Categoría: Noticias

Scientists have carried out one of the largest experimental studies of breast cancer variants to date, helping pinpoint genetic changes that are most likely to contribute to the development of the disease.

Researchers at VIB and KU Leuven have uncovered how mutations in the ASPM gene disrupt the development of neural stem cells that help the human brain grow. This disruption explains how these mutations cause microcephaly, a condition characterized by an…

Rice University’s Han Xiao has used his AI-supported Sequence Display technology to expand the targeting abilities of CRISPR/Cas9. In a paper recently published in Nature Communications, Xiao evolved several variants of a compact Cas9 that could effici…

The action of a key gene is required to maintain a lifelong supply of stem cells that make bone healing possible, a new study finds.

In many cases, all it takes is one mutated gene to orchestrate changes across a whole network of genes linked to autism, according to new results published in Nature by researchers at Boston Children’s Hospital. The finding could explain why different …

Researchers at the Macquarie University Brain Institute and Clinic have helped accelerate the search for disease-causing genes by building new genetic ‘families.’ The team uncovered hundreds of previously unrecognized family connections by analyzing th…

A new molecular map of breast cancer has identified novel forms of the disease and provides a foundation for selecting personalized treatments guided by a tumor’s molecular characteristics rather than standard pathology alone.

Yale School of Medicine researchers have discovered new genetic risk factors associated with a subtype of the eye condition glaucoma. The findings highlight a novel mechanism that may contribute to the onset of the disease.

Alpha-1 antitrypsin deficiency (AATM) is a congenital metabolic disorder. It is caused by a genetic defect, which results in the protective protein alpha-1 antitrypsin (AAT) being produced incorrectly. This deficiency primarily damages the lungs and th…

Two studies involving investigators at Cedars-Sinai Guerin Children’s and the University of Cambridge, U.K., highlight the growing potential of whole-genome sequencing to transform the diagnosis and treatment of childhood conditions such as cerebral pa…