Centre for Genomics and Child Health
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The Centre for Genomics and Child Health brings together clinical and non-clinical scientists researching genomics in order to address the biology of health and human disease. This research has strong translational links to many clinical diseases, particularly those prevalent in childhood.
Recent Submissions
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Outdoor air pollution and near-fatal/fatal asthma attacks in children: A systematic review.
(2024-03-13)BACKGROUND: Globally, observational studies have demonstrated an association between high levels of air pollution and asthma attacks in children. It remains unclear whether and to what extent exposure may be associated ... -
Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.
(Nature Research, 2024-02-19)Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes1,2 and molecular mechanisms that are often specific to cell type3,4. Here, to characterize the genetic contribution ... -
Inflammation and epithelial repair predict mortality, hospital readmission, and growth recovery in complicated severe acute malnutrition.
(2024-02-28)Severe acute malnutrition (SAM) is the most high-risk form of undernutrition, particularly when children require hospitalization for complications. Complicated SAM is a multisystem disease with high inpatient and postdischarge ... -
Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference.
(2024-02)Most genome-wide association studies (GWAS) of major depression (MD) have been conducted in samples of European ancestry. Here we report a multi-ancestry GWAS of MD, adding data from 21 cohorts with 88,316 MD cases and ... -
Effect of a 2-week interruption in methotrexate treatment on COVID-19 vaccine response in people with immune-mediated inflammatory diseases (VROOM study): a randomised, open label, superiority trial.
(2024-02)BACKGROUND: Methotrexate is the first-line treatment for immune-mediated inflammatory diseases and reduces vaccine-induced immunity. We evaluated if a 2-week interruption of methotrexate treatment immediately after COVID-19 ... -
Clinical efficacy and satisfaction of a digital wheeze detector in a multicentre randomised controlled trial: the WheezeScan study.
(2024-01)INTRODUCTION: Wheezing is common in preschool children and its clinical assessment often challenging for caretakers. This study aims to evaluate the impact of a novel digital wheeze detector (WheezeScan™) on disease control ... -
P03.08.A HIGH-DIMENSIONAL CHARACTERISATION OF THE CELLULAR AND MOLECULAR CHANGES IN THE HUMAN BRAIN AFTER RADIOTHERAPY
(Oxford University Press (OUP), 2023-09-08) -
OS07.6.A INVESTIGATING REGIONAL HETEROGENEITY AND PROGRESSION-ASSOCIATED MARKERS IN OLIGODENDROGLIOMAS
(Oxford University Press (OUP), 2023-09-08) -
A core outcome set for bronchiectasis in children and adolescents for use in clinical research: an international consensus study
(Elsevier, 2023-12-06)Improving the treatment of non-cystic fibrosis bronchiectasis in children and adolescents requires high-quality research with outcomes that meet study objectives and are meaningful for patients and their parents and ... -
STEM-02. SYNGN: A NOVEL EPIGENETIC PLATFORM FOR PATIENT-SPECIFIC DRUG-MATCHING IN GLIOBLASTOMA
(Oxford University Press (OUP), 2023-11-10) -
Cerebral organoids with chromosome 21 trisomy secrete Alzheimer's disease-related soluble aggregates detectable by single-molecule-fluorescence and super-resolution microscopy
(Springer Nature, 2023-12-15)Understanding the role of small, soluble aggregates of beta-amyloid (Aβ) and tau in Alzheimer's disease (AD) is of great importance for the rational design of preventative therapies. Here we report a set of methods for the ... -
Optimal age and outcome measures for Alzheimer's disease prevention trials in people with Down syndrome
(Wiley Open Access, 2020-11-23)INTRODUCTION: People with Down syndrome (DS) typically develop Alzheimer's disease (AD) neuropathology before age 40, but a lack of outcome measures and longitudinal data have impeded their inclusion in randomized controlled ... -
Direct image to subtype prediction for brain tumors using deep learning
(Oxford University Press, 2023-11-01)BACKGROUND: Deep Learning (DL) can predict molecular alterations of solid tumors directly from routine histopathology slides. Since the 2021 update of the World Health Organization (WHO) diagnostic criteria, the classification ...