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hrp0097rfc10.3 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) & Multisystem endocrine disorders | ESPE2023

Non-coding Variants in HK1 Account for 5% of Cases of Congenital Hyperinsulinism Without an Identified Genetic Cause

Rosenfeld Elizabeth , E. Boodhansingh Kara , A. Stanley Charles , Ganguly Arupa , D. De Leon Diva

Background: The genetic etiology of non-syndromic HI remains unknown in over 20% of all cases, and over 50% of diazoxide-responsive cases. Non-coding variants in HK1 have been suggested to cause HI by linkage-analysis (Pinney et al., 2008). More recently, variants within a regulatory region of HK1 intron 2 were reported in 17 individuals with HI (Wakeling et al., 2022). These variants have been proposed to cause HI by disrup...

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hrp0097p1-283 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Developing a Collaborative Research Network to Accelerate the Understanding and Treatment of the Rare Disease Congenital Hyperinsulinism

Pasquini Pasquini Tai , Raskin Julie , De León-Crutchlow Diva , Banerjee Indi , Christesen Henrik , Conwell Louise , Dastamani Antonia , Flanagan Sarah , Gillis David , Kalish Jennifer , Lord Katherine , Stanley Charles , Zangen David , Thornton Paul

Background: Congenital Hyperinsulinism International (CHI) is an international non-profit organization focused on improving the lives of patients and families living with hyperinsulinism (HI). Despite many advances in the care of patients with HI, long term neurologic outcomes have not significantly improved, highlighting the need for CHI’s goals for robust and rapidly translatable research. We describe the development of a collaborative research network...

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ESPE Abstracts

Non-coding Variants in HK1 Account for 5% of Cases of Congenital Hyperinsulinism Without an Identified Genetic Cause

Developing a Collaborative Research Network to Accelerate the Understanding and Treatment of the Rare Disease Congenital Hyperinsulinism

BiosciAbstracts