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…
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 genetic driver found for rare small intestinal cancers
A signaling system known as the Wnt pathway plays a central role in how cells in the intestine…
Early genomic testing prevents years of inconclusive visits for pediatric patients
For many families, eight years of uncertainty meant repeated specialist visits, inconclusive genetic tests and the growing fear…
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…
Corneal nerve function declines with age in aniridia patients
Congenital aniridia is a rare disease caused, in most cases, by mutations in the PAX6 gene, which is…
Rethinking Mendelian assumptions in inherited retinal degenerations
Dec 22 2025 A new study challenges what’s long been assumed about genetic variants thought to always cause…
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,…