Three-year-old Logan Reese was diagnosed with transverse myelitis, a rare neurological condition caused by inflammation of ...

A federal advisory committee that provides guidance on which rare diseases newborns should be screened for has been dissolved ...

In Washington, even widely hailed programs with bipartisan support — like the rare pediatric disease priority review voucher ...

AI helped Thomas Wagner understand Alexander disease, find connection with other conditions and discover researchers who ...

These slow, agonizing deaths can be prevented—but our new science-averse health czar apparently doesn’t see that as a priority in his Make America Healthy Again crusade. Along with the 10,000 or so ...

At only two days old, Sophie was losing too much weight, and too quickly. Further genetic testing would show that Sophie has ...

Childhood-onset striatonigral degeneration is a rare genetic disorder that robs children of the ability to walk and speak by ...

The Genetic Architecture of Congenital Diarrhea and Enteropathy - (https://www.nejm.org/doi/10.1056/NEJMoa2405333) ...

Knight says that the method of transmission that Collinge identified is “extremely unusual,” and there’s no evidence that ...

The United States recorded three measles deaths in the first 24 years of this century. In just over three months of 2025, it ...

With the annual cost estimated to be about ₹1 crore for each child requiring treatment for ultra-rare diseases, the Medical ...