Fighting Friedreich’s ataxia: A pediatric cardiologist’s journey of innovation and collaboration
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 drug, CTI-1601, involved extensive collaboration with numerous organizations, partners and colleagues over the last two decades. His innovative approach and entrepreneurial spirit have resulted in a treatment that offers new hope to patients and their families.
Genetic detectives unlock 16-year mystery
IU’s Undiagnosed Rare Disease Clinic gains national distinction for expertise in diagnosing unknown genetic disorders as part of international investigative network.
Powerful new genomic sequencing tool available to researchers
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
IU researchers uncover mysteries behind immune response to hemophilia A treatment
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
IU researchers investigate the protein BVES and its important role in muscular dystrophy
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
Researchers uncover new drug combination to treat rare pediatric cancer called JMML
IU School of Medicine researchers have identified a promising new combination of drugs for treating a rare form of childhood blood cancer called JMML.
Case solved: Undiagnosed Rare Disease Clinic resolves family's 15-year journey to diagnosis
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
Diagnostic event helps dozens
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
Undiagnosed Rare Disease Clinic uses tech and teamwork to solve medical mysteries
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
New publication means improved outcomes for children with Kawasaki disease
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,