Actor turned rare disease advocate Luke Rosen tells how his daughter, Susannah, lives with a KIF1A-associated neurological ...

In humans, hundreds of proteins interact in a complex network dubbed the interactome. Those interactions are further complicated when disease-causing mutations are introduced into genes that code for ...

A University of Massachusetts Amherst scientist has discovered that a mutation in the misfolding protein that causes Parkinson’s disease offers protection against another fatal neurodegenerative ...

The SCN2A Foundation today announced a research collaboration with Unravel Biosciences, Inc., an AI-enabled therapeutics company established to advance drugs for complex diseases. The collaboration ...

Despite the end of the pandemic, COVID-19 continues to pose a serious health threat. Most individuals have established robust immune protection and do not develop severe disease but the infection can ...

Researchers in Class of 1942 Professor of Chemistry Matthew D. Shoulders' lab have uncovered a sinister hidden mechanism that ...

In a recent study posted to the bioRxiv* preprint server, researchers assessed the effects of N501Y mutation of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) spike (S) protein on ...

Mutations in genes that form the desmosome are the most common cause of the cardiac disease arrhythmogenic cardiomyopathy (ACM), which affects one in 2000 to 5000 people worldwide. Researchers have ...

Ahead of harvest season in Hasakeh, the wheat is drying up. — © AFP Ahead of harvest season in Hasakeh, the wheat is drying up. — © AFP In a recent study, Tokyo ...

Cells operate on rules not vibes, including when on the precipice of persisting or perishing. Yet, with prior research ...