Royal Devon & Exeter NHS Foundation Trust

Clinical Utility of a Type 1 Diabetes Genetic Risk Score Measured as Part of MODY Genetic Testing

<p dir="ltr">Objective</p><p dir="ltr">To evaluate the clinical utility of incorporating a type 1 diabetes genetic risk score (T1DGRS) into monogenic diabetes gene panel testing for individuals referred with suspected maturity-onset diabetes of the young (MODY)...

Fifteen minute consultation: managing children with HNF1B pathogenic variants

Hepatocyte nuclear factor 1 beta ( HNF1B ) related disease is associated with multisystem involvement, most commonly renal developmental disorders and diabetes alongside a spectrum of other clinical features. With the increasing availability of genomic testing, paediatricians acr...