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Showing results for Rare Disease Research

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  |  Feb 13, 2024

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 sequencing can go.

IU School of Medicine  |  Aug 29, 2023

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 factor VIII treatments, providing valuable insights that could lead to more effective and safer hemophilia A treatments in the future. 

Jackie Maupin  |  Aug 10, 2023

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 type 25 which is caused by genetic mutations in blood vessel epicardial substance (BVES).

Jackie Maupin  |  Apr 05, 2023

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. 

Jackie Maupin  |  Apr 04, 2023

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 Disease Clinic (URDC) at IU School of Medicine.

Laura Gates  |  Feb 23, 2023

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 in Indianapolis by the College of American Pathologists (CAP) Foundation.

See, Test and Treat events take place across the country and provide essential medical services to dozens of patients, free of charge, thanks to grant funding from CAP.

Caitlin VanOverberghe  |  Jun 17, 2022

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 stemming from genetic code errors.

Laura Gates  |  Feb 25, 2022

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, MD, was the local lead investigator and one of the authors of a paper recently published in The Lancet: Child and Adolescent Health, called “Infliximab versus second intravenous immunoglobulin for treatment of resistant Kawasaki disease in the USA (KIDCARE): a randomised, multicentre comparative effectiveness trial.”

Anna Carrera  |  Nov 09, 2021

Celebrating Excellence: IU School of Medicine student solves her own mystery illness

In 2019, Dana Mitchell, a fourth-year medical student at IU School of Medicine, was diagnosed with autoimmune encephalitis—a brain inflammation that wreaks neurological havoc. In search of a therapy that would provide lasting relief of her debilitating symptoms, Mitchell reviewed 40 years-worth of research—and discovered a drug combination, not previously used in this disease, that worked to restore her health. She exemplifies the spirit of excellence, an IU School of Medicine core value.

Laura Gates  |  Oct 26, 2021