Rare Diseases

The landmark study paves the way for researchers to customize the technology and treat other individual patients with genetic diseases caused by ultra-rare “N-of-1” variants.

Researchers are creating a platform to help fast-track personalized gene-editing therapies for patients with urea cycle disorders.

Researchers in the Center for Computational and Genomic Medicine developed a new tool to read RNA more accurately.

Denise Adams, MD, participated in an FDA-hosted panel discussion about improving young medical professionals’ understanding of rare diseases.

Researchers evaluated whether the standard treatment for a rare disease called agammaglobulinemia is cost-effective in the United States.