Blood protein profiling could improve rare disease diagnosis
Researchers from Queen Mary University of London, the Berlin Institute of Health at Charité (BIH) and Genomics England…
Vietnam doctors diagnose country’s 1st confirmed case of rare ‘stone man syndrome’
Dr. Le Thanh Binh (R) and Dr. Nguyen Duong Phi of City Children’s Hospital pose for a photograph…
Gene therapy successfully treats deadly childhood liver disease in mice
A new gene therapy has been used to successfully treat a deadly childhood liver disease using mice that…
New DNA test improves diagnosis of rare genetic disorders
A new test provides a much more complete picture of DNA than current standard diagnostics and leads to…
New blood test spots four cancers and other diseases by stripping away healthy DNA noise
By cutting through the overwhelming background of healthy blood DNA, MethylScan gives clinicians a clearer view of cancer,…
Purdue University accelerates rare disease drug discovery with the WELLJET dispenser stacker
Scientists at Purdue University are using the WELLJET dispenser stacker from INTEGRA Biosciences to increase the speed, consistency…
GOP Sen. Johnson investigating FDA rare disease drug rejections
WASHINGTON — Sen. Ron Johnson (R-Wis.) said he is investigating the Food and Drug Administration’s rejections of rare disease…
Study aims to understand molecular origins of CTNNB1 neurodevelopmental syndrome
On the occasion of Rare Disease Day, the Biofisika Institute (CSIC, EHU) presents the progress of a project…
AI model popEVE: Prioritizing genetic variants effectively
By combining deep evolutionary signals with human population data, the popEVE model provides a novel approach to identifying…
Multiple protein forms from a single gene offer fresh insight into rare disease mechanisms
Iain Cheeseman and colleagues reveal the underappreciated role of single genes producing multiple proteins in atypical presentations of…
GLP-1 goliath updates demand for top weight loss drug
Novo Nordisk reported Q3 2025 earnings on November 5, showing continued strong demand for its weight-loss drug Wegovy,…
Bionano Highlights 9 OGM Studies at ASHG 2025 on SVs
Bionano Genomics (NASDAQ: BNGO) participated in the American Society of…