researcher sitting at computer in lab
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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.

Jasmin Cheairs  | Feb 25, 2025
Madison smiling--blonde girl in color with black-and-white background

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

Laura Gates
Simon Conway, PhD, Henry and Paige Snider, PhD at the Conway lab

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

Jackie Maupin
Erin Conboy, MD

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

Laura Gates
Rada Malko (right) receiving her poster award from Amelia Linnemann, PhD (left) at the 2024 Wells Center Retreat.

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

Jennifer Eicher
Mark Payne, MD, in his lab

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

Jackie Maupin
Aly Edmondson as a child in the hospital and now at 16 with her car

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.

Laura Gates
CMG team with new NovaSeq X Plus

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 School of Medicine
Radek Kaczmarek, PhD

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

Jackie Maupin
Members from the Han Lab

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

Jackie Maupin