Researchers at the University of Chicago have developed a more sensitive liquid biopsy test that uses RNA instead of DNA for detecting cancer. Using blood samples from patients with colorectal cancer, the test was able to detect the earliest stages of the disease with 95% accuracy, vastly improving on current, commercially available, non-invasive testing methods.

An international research team led by CIC bioGUNE has advanced understanding of classical homocystinuria, a rare genetic disorder that impairs the breakdown of homocysteine, causing systemic health issues. Published in The FEBS Journal, the study focuses on the R336C mutation in the CBS enzyme. Contrary to previous beliefs that this mutation denatures the enzyme, researchers found that the enzyme's structure remains mostly intact but exhibits abnormal flexibility. This impairs communication between its cofactor (vitamin B6 derivative) and catalytic site, reducing enzymatic function.

Key findings include:

The R336C mutation causes subtle structural shifts affecting the PLP cofactor’s function.

It disrupts enzyme activity not by structural collapse but by altering its internal dynamics.

The Bateman module, crucial for enzyme regulation, becomes overly mobile, hindering substrate access.

These insights explain poor patient response to vitamin B6 therapy and suggest new treatment strategies, such as drugs to restore cofactor interaction or modulate enzyme flexibility. The study emphasizes the value of international collaboration in rare disease research and the development of personalized medicine.

A new study underscores the urgent need to better integrate mental health services into South Africa’s primary healthcare (PHC) system. With 92% of people living with mental health conditions not receiving adequate treatment, the research—conducted in Sedibeng District and published in Cambridge Prisms: Global Mental Health—offers critical insights into how integrated care models can bridge this gap.This study highlights that integration alone is insufficient. Without strategic leadership, functional infrastructure, and proper resourcing, integrated mental health care cannot be sustained. As South Africa and other low- and middle-income countries pursue integrated models, the findings offer a blueprint for policy, investment, and reform—critical for delivering quality mental health care within communities.