People are using AI chatbots for mental health advice, but the AI focuses on common issues and can miss rare conditions. Here ...

Comic books love the idea of genetic mutations unlocking hidden abilities, and real life has its own version of that story. A small number of rare medical conditions can create traits that look almost ...

Coryssa Barnes, of Henderson, N.C., welcomed her first child, Ezra, in 2020. At four months old, he was unable to sit without support. As time went on, he failed to reach other developmental ...

The Orphan Drug Act has spurred rare disease research, increasing treatments from 34 to approximately 800, but access remains limited by coverage and payment models. Most rare diseases still lack ...

A Texas family is racing to raise $3 million to develop a one-of-a-kind treatment for their baby, who has an ultra-rare ...

The family has urged the court to direct the Union Government to release the required funds without delay.

Rare neuromuscular diseases often lack treatments because developing targeted drugs is slow, costly and risky for companies. A new approach using AI and stem cell models could finally shift the ...

Stecker is a rare disease mother and advocate and served as assistant secretary of public affairs and deputy chief of staff at the Department of Health and Human Services. Every parent dreams of a ...

UNC Health, based in Chapel Hill, N.C., has launched what it called the world’s first standardized rare-disease coding tool, integrating Mondo Disease Ontology codes into its EHR. As part of Epic’s ...

The National Organization for Rare Disorders (NORD®) today celebrated the signing of House Bill 46 into law by Governor Phil Scott, establishing a Rare Disease Advisory Council (RDAC) ...