Billie Frankcombe, 11 months old, was born a "healthy" baby, hitting all her milestones, but parents Hannah and Ben grew ...

When people hear failure, they imagine disaster. In aviation, failure is expected, & planned for. The system is designed with ...

A "genomic-first" approach to screening for rare genetic disorders—identifying specific genetic variants and then studying ...

Danielle Carnival has a new moonshot project. Carnival, who led then-President Joe Biden ’s cancer moonshot initiative, is now CEO of the Undiagnosed Diseases Network Foundation, a nonprofit that ...

According to the National Organization for Rare Disorders, the condition is a rare genetic disorder characterized by abnormalities of the skeletal muscles, including weakness and stiffness, abnormal ...

When you stop to think about it, the human body is pretty amazing. It knows how to heal when we’re hurt, protect us from ...

From royal tragedy to medical milestones, explore the fascinating history of hemophilia—once known as the "Royal disease"—and its enduring impact.

Human eye colour, a captivating feature, arises from melanin, iris structure, and genetics, creating diverse shades from brown to blue. Brown eyes are ...

If future studies confirm the rescued receptors work normally, the study offers a new roadmap for rare disease drug development.

It’s right after dawn, and the air is quiet and cool. Most of my garden is waking up, but the pink and yellow four-o-clocks, having offered their fragrance all night, are closing. Broad caladium ...

Cache Valley virus has been detected in mosquitoes in Lancaster County, local health officials said Friday. The Lincoln-Lancaster County Health Department said it found the virus in mosquitoes ...

Artificial Intelligence (AI) is significantly impacting the healthcare sector, particularly in diagnosing rare diseases. One of the most intriguing advancements is AI’s newfound ability to detect ...