Scientists at Pacific Northwest Research Institute (PNRI) report that pairs of genetic variants previously classified as damaging can frequently restore normal protein function when present together, overturning a core assumption in human genetics. In a large experimental study of a rare-disease gene, more than 60% of damaging variant pairs rescued enzyme activity. The findings could improve genetic diagnosis and risk prediction for rare disorders by revealing when standard interpretations overestimate disease severity.

A Carnegie Mellon University-led team has received up to $28.5 million to develop a functional, 3D bioprinted liver for patients with acute liver failure. The temporary, immune-compatible liver is designed to support regeneration of a patient’s own liver, reducing the need for full organ transplants.

Bacteria can actively swim upstream, leading to severe infections in places like the urinary tract and respiratory system and contamination of medical devices like catheters. University of Pennsylvania biophysicist Arnold Mathijssen and colleagues have uncovered how and why this happens, revealing that E. coli actually “thrives under pressure.” Their findings point to new strategies for designing safer, more effective biomedical tools and treatments.

Pennington Biomedical Research Center’s Dr. Gang Hu of the Center’s Chronic Disease Epidemiology Lab was recently appointed to serve as a member of the Population Sciences and Epidemiology Integrated Review Group (IRG) for the NIH Reproductive, Perinatal and Pediatric Health (RPPH) study section. The IRG for the RPPH previews applications submitted to the NIH, makes recommendations on the applications to the appropriate national advisory council, and surveys the status of research in the field of population science and epidemiology. 

The American Heart Association (The Association) has awarded a prestigious $160,000 postdoctoral fellowship to Abhishek Mishra, Ph.D., a postdoctoral fellow in the laboratory of Maria Kontaridis, Ph.D., executive director, Gordon K. Moe professor and chair of biomedical research and translational medicine at Masonic Medical Research Institute (MMRI). This funding will support Dr. Mishra’s ongoing research in heart failure with preserved ejection fraction (HFpEF) for two years, a condition that affects millions worldwide.

New research has identified that neuroinflammation driven by microglia (immune cells in the brain) is a primary underlying driver of prolonged negative feelings caused by repeated, sustained binge drinking (binge exposure). Negative emotional states caused by alcohol contribute to alcohol use disorder (AUD) and its associated mental health conditions such as depression. The findings from a study in The American Journal of Pathology, published by Elsevier, open the door for immune therapies to treat AUD, for which effective treatments are currently limited.