Showing results for Rare Disease Research

Rare Disease Day is a day dedicated to advocating for health equity and raising awareness about rare diseases.

The Undiagnosed Rare Disease Clinic at IU School of Medicine investigates the cold cases of rare disease. Genetic detectives solved a case for an Indianapolis ...

A local family’s collaboration with scientists at the Herman B Wells Center for Pediatric Research has resulted in a groundbreaking research model to study Barth ...

Erin Conboy, MD, is co-director of the Undiagnosed Rare Disease Clinic at IU School of Medicine, solving the cold cases of genetic disease. She’s also a ...

Read the inspiring story of how Rada Malko overcame the adversities of being a young immigrant to becoming an accomplished student at the IU School ...

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 ...