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Research

A flexible computational pipeline for research analyses of unsolved clinical exome cases

Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.

Research

Preclinical Evaluation of Carfilzomib for Infant KMT2A-Rearranged Acute Lymphoblastic Leukemia

Infants with KMT2A-rearranged B-cell precursor acute lymphoblastic leukemia (ALL) have poor outcomes. There is an urgent need to identify novel agents to improve survival. Proteasome inhibition has emerged as a promising therapeutic strategy for several hematological malignancies. The aim of this study was to determine the preclinical efficacy of the selective proteasome inhibitor carfilzomib, for infants with KMT2A-rearranged ALL.

Research

Assessing the burden of laboratory-confirmed respiratory syncytial virus infection in a population cohort of Australian children through record linkage

Respiratory syncytial virus is pervasive across multiple severity levels and diagnoses. Vaccines targeting children <3 months must be prioritized

Research

Chronic health conditions, mental health and the school: A narrative review

School-based social risk processes in the lives of young people with chronic health conditions are likely to contribute to risk of psychological problems

Research

Targeting cytokine- and therapy-induced PIM1 activation in preclinical models of T-cell acute lymphoblastic leukemia and lymphoma

IL7 and glucocorticoids coordinately drive aberrant activation of PIM1 and suggests that T-ALL and T-LBL patients could benefit from PIM inhibition

Research

Putting ‘Justice’ in Recovery Capital: Yarning about Hopes and Futures with Young People in Detention

We must celebrate success and hope through a process of mapping and building recovery capital in the justice context at an individual and institutional level