Expanded newborn genetic screening can diagnose hundreds of actionable conditions, allowing for earlier treatment.
A new AI model called popEVE can predict how likely each variant in a patient’s genome is to cause disease. The team is ...
Oliver has an inherited condition called Hunter syndrome, which causes progressive damage to the body and brain.
"Hearst Magazines and Yahoo may earn commission or revenue on some items through these links." Many of us are familiar with the symptoms, treatments, and causes of common health conditions, like ...
RWJUH and Rutgers RWJMS designated a National Rare Disease Center of Excellence from NORD, highlighting leadership in rare ...
A rare and life-threatening kidney disease in children finally has an effective therapy, thanks in large part to pioneering ...
These 5 diseases, which you’ve probably never heard of, may seem anything but rare to the people and families affected. Some ...
Maggie Aime has over 25 years of experience in healthcare and as a nurse across specialties including oncology, kidney transplant, cardiology, and more. She leverages her rich healthcare experience to ...
VHL, a genetic cancer condition, recently was featured on "Grey's Anatomy." Feb. 10, 2011 — -- In a multi-episode arc on "Grey's Anatomy," actor Scott Foley plays a von Hippel-Lindau (VHL) ...
Miley Cyrus opened up about a rare vocal disorder that's prevented her from going on global tours in recent years. The "Flowers" singer revealed that she suffers from a vocal condition called Reinke's ...