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It was during a time of grief that John Mearns was inspired to make a difference.
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.
The aim of RESP-ACT is to reduce these children’s respiratory hospital admissions and visits to Emergency Department, and to help them and their families to have as the best possible quality of life.
A Closed-Loop System will potentially have a major impact upon acute and chronic complications of diabetes as well as upon their quality of life.
Young people diagnosed with Type 1 Diabetes are at risk of complications from their diabetes including kidney, heart, eye and vascular disease.
Healthy skin is a vital factor in the fight against life-threatening conditions like sepsis, heart disease and kidney disease, all of which can be caused by the bacteria Strep A.
The prevalence of IgE binding to the group 15 and 18 house dust mite (HDM) allergens of the Dermatophagoides species...
Vaccines including conserved antigens from Streptococcus pneumoniae & nontypeable Haemophilus influenzae have the potential to reduce of otitis media.
Direct UV irradiation of dendritic cells and Langerhans cells reduces their Ag presenting ability. However, the effects of UV on CD11c(+) cells located...
Australia's defence, infectious diseases