Barth syndrome breakthrough: Rare disease research fueled by determined family and scientists
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 syndrome, a rare genetic disorder.
In the arena with Erin Conboy: Champion of rare disease cases is world champ in Brazilian jiu-jitsu
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
Navigating adversity to advance medicine: The inspiring journey of Rada Malko
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
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
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