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When investigating whether a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign a clinical classification. Functional assays of higher and higher throughput are increasingly being generated and, when appropriate, can provide strong functional evidence for or against pathogenicity in variant classification. Despite functional assay data representing unprecedented value for genomic diagnostics, challenges remain around the application of functional evidence in variant curation.

CGM with remote monitoring was found to improve multiple measures of quality of life, reduce family stress, and improve parental sleep

The Pankowska Equation resulted in reduced postprandial hyperglycaemia at the expense of an increase in hypoglycaemia

This study investigates the performance of an iteration of the Medtronic hybrid closed-loop algorithm

This is a randomised controlled home trial to test the MiniMed Medtronic 670G system in people with type 1 diabetes aged 12-25 years

This study provides evidence for a possible plateauing in the incidence of childhood T1D in Western Australia, following a peak in 2003

This study reports similar glycemic outcomes for patients attending diabetes clinics in metropolitan and non-metropolitan areas of WA

To examine the association between glycated hemoglobin (HbA1c) and severe hypoglycemia rates in patients with type 1 diabetes receiving usual care.

The plasma glucose response to moderate-intensity exercise can be reproducible in adolescents with Type 1 diabetes

This study reports similar glycemic outcomes for patients attending diabetes clinics in metropolitan and non-metropolitan areas of WA, suggesting that a model of care provided as outreach from a specialized diabetes service is effective in achieving equitable glycemic outcomes.