A new documentary aims to raise rare disease awareness by focusing on the struggles faced by families of children with…
Articles by Marisa Wexler, MS
Researchers at Oregon State University are developing an artificial intelligence (AI) chatbot to help doctors diagnose rare disorders like…
The National Organization for Rare Disorders (NORD) will host its first rare disease scientific symposium, in hopes of advancing…
More than half of all therapies approved by the U.S. Food and Drug Administration (FDA) in 2024 were designed to…
Researchers in the U.K. have developed a new method to help identify people with undiagnosed AADC deficiency based on…
An international program that screened more than 160 children thought to have movement disorders like cerebral palsy led to one…
Through a series of interviews with doctors, caregivers, and members of the general public, scientists have calculated new health state…
Comprehensive testing and continual re-evaluation of available data are needed to diagnose adults with rare genetic diseases, a new study…
Two years after treatment with the gene therapy Kebilidi (eladocagene exuparvovec-tneq), Sriansh Ojha, a toddler with AADC deficiency,…
The U.S. Food and Drug Administration (FDA) has approved PTC Therapeutics’ one-time gene therapy, now called Kebilidi (eladocagene…