With the recent passing of actor Eric Dane, there's increased awareness of ALS — also known as Lou Gehrig's Disease.

A multinational, multidisciplinary group of experts has created a consensus document to guide diagnosis, staging and management of adults with alpha-1 antitrypsin deficiency-associated liver disease, ...

Babies with an increased likelihood of autism may struggle to settle into deep, restorative sleep, according to a new study from the University of East Anglia. Researchers studied the link between ...

Researchers developed DeepRare, an LLM-driven multi-agent diagnostic system that integrates clinical descriptions, phenotype ...

Rare diseases are complex medical disorders that are notoriously difficult to diagnose because many present with a wide ...

Rare lung diseases affect people nationwide, yet many patients go undiagnosed or misdiagnosed for years. One rare lung disease that illustrates the challenges of timely diagnosis is autoimmune pulmona ...

Connecticut prides itself on strong schools, world-class healthcare, and a commitment to caring for its most vulnerable residents. We are a state that values education, innovation, and community. Yet ...

Sleep apnea sufferers may soon have a new path to a good night’s sleep. A Massachusetts biotech startup is preparing to file for FDA approval of a once-nightly pill that could become the first ...

A global revolution in genetic sequencing is helping University of Otago scientists solve the mysteries of ultra-rare disorders, for one family at a time. It’s called the diagnostic odyssey: an ...

This article was featured in New York’s One Great Story newsletter. Sign up here. The first nine days of Jorie Kraus’s life followed a pattern: problem, solution. Problem, solution. Problem: Jorie was ...

OREGON, USA — Nearly two decades after first being identified, a rare and life-threatening brain-inflammation disease may soon have new treatment candidates. The disorder, called anti-NMDA ...