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…
Gene therapy shows promise against deadly childhood liver disease
A new gene therapy has been used to successfully treat a deadly childhood liver disease using mice that…
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 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…
Base editing approach repairs deadly Dravet syndrome mutation in mice
Gene editing can repair a DNA error in mice that causes Dravet syndrome, a rare, incurable, and potentially…
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…