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…
FDA rejects drug for rare blood disorder
 The US Food and Drug Administration has rejected a small molecule for a rare blood disorder called…
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,…
A Rogue Gene Explains Mysterious Cases of Diabetes and Epilepsy in Newborns
Credit: Wikimedia Commons When six infants around the world were diagnosed with an odd trio of symptoms (diabetes,…
Oxford Nanopore Announces PromethION Plus Flow Cell and Human Genetics Updates at ASHG 2025
OXFORD, England, October 15, 2025–(BUSINESS WIRE)–At the American Society of Human Genetics (ASHG) 2025 industry session on 16th…
Baylor Genetics Presents New Data on Clinical and
HOUSTON, Oct. 15, 2025 (GLOBE NEWSWIRE) — Baylor Genetics, a clinical diagnostic laboratory at the forefront of genetic…