Publications by authors named "Sarah Nesbitt"
Article Synopsis
- Most neonatal and infantile-onset epilepsies are thought to have genetic causes, and early genetic testing could help improve treatment and outcomes for affected infants.
- The Gene-STEPS study involved four pediatric centers across Australia, Canada, the UK, and the USA, where researchers collected blood samples and clinical data from infants under 12 months old who had new-onset epilepsy or complex febrile seizures.
- Out of 100 enrolled infants, 43 (43%) received genetic diagnoses through rapid genome sequencing, showing the effectiveness of this method in identifying underlying genetic factors.
Objectives: To develop a flexible droplet digital PCR (ddPCR) workflow to perform non-invasive prenatal diagnosis via relative mutation dosage (RMD) for maternal pathogenic variants with a range of inheritance patterns, and to compare the accuracy of multiple analytical approaches.
Methods: Cell free DNA (cfDNA) was tested from 124 archived maternal plasma samples: 88 cases for sickle cell disease and 36 for rare Mendelian conditions. Three analytical methods were compared: sequential probability ratio testing (SPRT), Bayesian and z-score analyses.
Background: Early diagnosis of Parkinson's disease and mild cognitive impairment is important to enable prompt treatment and improve patient welfare, yet no standard diagnostic test is available. Metabolomics is a powerful tool used to elucidate disease mechanisms and identify potential biomarkers.
Objectives: The objective of this study was to use metabolic profiling to understand the pathoetiology of Parkinson's disease and to identify potential disease biomarkers.
Purpose: To quantify the economic costs of vision loss in Australia and assess the impact of a costed intervention package to prevent avoidable vision loss.
Design: Existing Australian population-based data on prevalence and causes of visual impairment were used, and costs were calculated from published data for the five main causes of visual impairment.
Methods: The cost of vision loss in Australia was determined from the weighted prevalence of visual impairment; unpublished data on the indirect costs of vision; and national databases on health care costs and other economic data.