A "genomic-first" approach to screening for rare genetic disorders—identifying specific genetic variants and then studying associated traits and symptoms—can identify these conditions earlier and more ...

A local mother is fighting to secure access to a potentially life-changing treatment for her daughter, who suffers from a rare genetic disorder.

Rare disorders arise from genetic alterations that interfere with essential cellular functions. Although each condition ...

Attached to nearly every human cell is an antenna-like structure known as the primary cilium, which senses the cell's environment and controls how it responds to signals from its surroundings. New ...

The U.S. Food and Drug Administration (FDA) announced Rare Disease Evidence Principles (RDEP) to allow for faster approval of treatments for ultra-rare genetic diseases. A product is eligible if it ...

A mother and her daughter with a rare disease in Guangzhou, South China's Guangdong Province, on January 31, 2024 Photo: VCG.