Research News

The cellular glitches underlying a rare genetic disorder called activated PI3K Delta syndrome 2 (APDS2) have been identified by researchers at the Garvan Institute of Medical Research. The disorder is caused by genetic variations that disrupt immune cell signalling through a protein called PI3K.

A research team at Duke Health has identified a set of biomarkers that could help distinguish whether cysts on the pancreas are likely to develop into cancer or remain benign.

Appearing online March 17 in the journal Science Advances, the finding marks an important first step toward a clinical approach for classifying lesions on the pancreas that are at highest risk of becoming cancerous, potentially enabling their removal before they begin to spread.

Cancer treatments have long been moving toward personalization finding the right drugs that work for a patient’s unique tumor, based on specific genetic and molecular patterns. Many of these targeted therapies are highly effective, but aren’t available for all cancers, including non-small cell lung cancers (NSCLCs) that have an LKB1 genetic mutation.

A new substance has proven useful for treating staphylococcus infections in people with skin lymphoma. This is good news for the patients, but also for the global threat of antibiotics resistance.

The gut is home to a cast of microbes that influence health and disease.

Researchers have analysed image and genomic data from the UK Biobank to find insights into rare diseases of the human eye. These include retinal dystrophies – a group of inherited disorders affecting the retina – which are also the leading cause of blindness certification in working-age adults.