Implementing detection of low-level mosaic variants from blood samples in hyperinsulinism to improve diagnosis
Awardee: Sarah Flanagan
Institution: University of Exeter Medical School
Grant Amount: $70,920.00
Funding Period: February 1, 2023 - January 31, 2024
Summary:
A genetic diagnosis improves treatment and management of hyperinsulinsm; however, currently ~40% of children referred for genetic testing do not receive a genetic diagnosis. One reason for these missed diagnoses is that some children have mosaic variants, which cannot be detected by standard DNA sequencing. Mosaic variants occur during development so will only be present in some tissues, which is why they are hard to detect in genetic testing of blood samples. Our preliminary data identified 8 patients with previously undetected mosaic variants. Our study will develop these methods for detecting mosaic variants so that they can be included in diagnostic genetic testing for hyperinsulinsm worldwide.