At the heart of the Iowa Undiagnosed Diseases Program (UDP), clinicians and researchers are taking bold steps to reduce the number of undiagnosed cases in the rare disease community. In partnership with leading tools and technologies—including Geneyx Analysis software—the program has made meaningful strides in solving complex clinical puzzles and delivering long-awaited answers to families.
Watch the live use case by Dr. Bharatendu Chandra, MD.
Highlights of Two Rare Disease Journeys
Sutton, a child with a devastating neurological condition, began regressing developmentally at just three months old. Despite extensive testing, traditional exome and mitochondrial sequencing failed to yield a diagnosis. The Iowa UDP team turned to comprehensive genome analysis and advanced tools like Geneyx Analysis to explore long-read sequencing, multi-sample interpretation, and integration with phenotypic data. While Sutton remains undiagnosed, these efforts have created a clear path forward, offering renewed hope and deep insights into his condition.
In another case, Lydia, a teenager with a severe neurodevelopmental disorder, had been living without a clear diagnosis for years. Exome data revealed a variant of uncertain significance in a critical manganese transporter gene, but only through transcriptome analysis and functional follow-up was a diagnosis reached. The software solutions used by the team, including Geneyx Analysis, allowed for multiomic integration and supported discovery of a treatment path—manganese supplementation—that significantly improved her clinical condition.
These successes are only possible through collaborative, data-driven approaches. Geneyx Analysis played a pivotal role by enabling rapid, precise interpretation of complex genomic data, phasing variants, and prioritizing actionable insights.
In the words of the UDP team, the future of rare disease care lies in persistent reanalysis, local accessibility, and the ability to ask more of our data. Geneyx is proud to support that vision.
This content is based on a lecture delivered by Dr. Bharatendu Chandra, MD, Assistant Professor in the Stead Department of Pediatrics, Division of Medical Genetics and Genomics, University of Iowa Carver College of Medicine.
Lecture Title: “Lessons Learned from the Iowa Undiagnosed Disease Center – Is It Worth Going the Extra Mile?”
