Showing results for Rare Disease Research

R. Mark Payne, MD, has pioneered a promising treatment for Friedreich's ataxia, a degenerative nervous system condition with no present cure. Payne's journey with his ...

IU’s Undiagnosed Rare Disease Clinic gains national distinction for expertise in diagnosing unknown genetic disorders as part of international investigative network.

IU School of Medicine’s Center for Medical Genomics recently acquired the Illumina NovaSeq X Plus—an instrument that exponentially expands the possibilities of how far next-generation ...

In a study published in Blood, researchers from Indiana University School of Medicine shed new light on the underlying causes of negative immune responses to ...

A study published in Nature Communications sheds new light on the development and treatment of a rare form of muscular dystrophy called limb-girdle muscular dystrophy ...

IU School of Medicine researchers have identified a promising new combination of drugs for treating a rare form of childhood blood cancer called JMML. 

After living with an undiagnosed eye disease for 15 years, Evan Mowery now has a definitive diagnosis—achromatopsia—thanks to the genetic sleuths at the Undiagnosed Rare ...

Members of the IU School of Medicine community offered up their patient care and pathology skills at the annual See, Test and Treat event, hosted ...

Established in January 2020 through a grant from IU’s Precision Health Initiative, the Undiagnosed Rare Disease Clinic uses team science to sleuth out medical mysteries ...

A new publication with contributions from an IU School of Medicine researcher could change the way doctors treat children diagnosed with Kawasaki disease. James Wood, ...