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This 11-year-old has battled a rare disease for years — a breakthrough drug helped deliver relief
Actor turned rare disease advocate Luke Rosen tells how his daughter, Susannah, lives with a KIF1A-associated neurological ...
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 ...
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 ...
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 ...
Sickle cell diseases arises from hemoglobin protein mutations. The mutation causes red blood cells to form a sickle shape rather than a round one. One study suggests that this mutation could be ...
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 ...
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 ...
The functioning of neurons, cells that transmit information in the nervous system, heavily relies on the production of ...
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