Sophia’s iHope Story: Diagnosing a Rare De Novo Mutation

December 13, 2017

Sophia and her family spent years in search of a diagnosis for her condition. Finally, a de novo mutation was discovered through a clinical whole genome sequencing (cWGS) test she received from the Illumina iHope Network. Hear her parents, her geneticist Dr Christian Schaaf of Baylor College of Medicine, and Illumina Senior Medical Scientist Dr John Belmont discuss what it means to have a diagnosis after a long journey. Learn more about the iHope Network, which donates cWGS tests to help find answers for children facing rare and undiagnosed diseases.

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A global genomics leader, Illumina provides comprehensive next-generation sequencing solutions to the research, clinical, and applied markets. Illumina technology is responsible for generating more than 90% of the world’s sequencing data.* Through collaborative innovation, Illumina is fueling groundbreaking advancements in oncology, reproductive health, genetic disease, microbiology, agriculture, forensic science, and beyond. *Data calculations on file. Illumina, Inc., 2015.

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