IU researchers use patient-derived model to explore immune system issues in Barth syndrome
Using genetic data from a Riley Children’s Health patient, IU researchers identified factors that contribute to neutropenia, a dangerous blood complication frequently seen in people with Barth syndrome.
IU neurologist's research leads to first FDA-approved drug to treat neurofibromatosis type 1
Patients who participated in the clinical trial of the new therapy not only experienced reduction in NF1 and plexiform neurofibromas tumor volume, but also reported
IU Ehlers-Danlos Syndrome expert educates health care providers throughout the world
Clair Francomano, MD, is one of the world’s foremost experts in Ehlers-Danlos syndromes and hypermobility spectrum disorders. She educates health care professionals and people worldwide
IU neuroscientist studying potential drug targets for debilitating tumors that grow on nerves
Jignesh Tailor hopes his studies into the role of NF2 gene mutation in neural stem cell differentiation failure and tumorigenesis will lead to new therapeutics
ALS researcher aims to discover hidden causes of neuromuscular disease on quest for new therapies
ALS Awareness Month: Brian Pierchala, PhD, is growing ALS research at IU School of Medicine through the Motoneuron Club and collaborative science.
Rare Disease Day: IU clinic finds answers for people living with undiagnosed diseases
Rare Disease Day is a day dedicated to advocating for health equity and raising awareness about rare diseases.
IU's Rare Disease Clinic solves 10-year medical mystery for Indianapolis girl with unknown neurodevelopmental disorder
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
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
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