SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment, causing epilepsy, intellectual disability, psychomotor delay and, frequently, autism. It is caused by mutations in the SYNGAP1 gene, which produces a protein essential for brain and cognitive development. Now, a multicentre study describes the wide variability in clinical symptoms among patients and reveals that the severity of the disease does not depend exclusively on the SYNGAP1 gene, but on other genetic factors that may modulate its clinical expression.

A new global study reveals dietary risks caused 5.91 million cardiovascular deaths in 2023. High sodium, low fruit, and low whole grain intake are the primary drivers. Although per-capita mortality is declining, aging populations are causing absolute death numbers to rise, particularly in China and Pacific Island nations.

New research has highlighted how inadequate environmental regulations and assessments of contaminated industrial land in India are endangering human populations and wildlife ecosystems.

Salk researchers collaborated with scientists at Albert Einstein College of Medicine to develop a new class of probes for imaging living cells. The probes, called visible-spectrum antigen-stabilizable fluorescent nanobodies (VIS-Fbs), generate high-contrast images with minimal disruption to normal cellular activity. The technology enables more precise investigation of complex biological processes, including cell signaling, development, and disease progression.

The National Center for Radiation Research in Oncology – OncoRay is receiving around 1.1 million euros in funding from the Federal Ministry of Research, Technology and Space under the program “Nuclear Safety and Radiation Research” for the joint project MEDABIS-PRO. The funding will be provided for a period of four years, shared between the Helmholtz-Zentrum Dresden-Rossendorf (HZDR) and the Carl Gustav Carus Faculty of Medicine at TUD Dresden University of Technology.

Many older Australians receiving government-funded home care struggle to get the support they need to live well at home, according to new research that reveals the daily challenges faced by a growing part of the community.