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Zika Virus Changes Methylation of Genes Involved in Immune Response and Neural Development in Brazilian Babies Born With Congenital Microcephaly

The recent increase in babies born with brain and eye malformations in Brazil is associated with Zika virus (ZIKV) infection in utero. ZIKV alters host DNA methylation in vitro. Using genome-wide DNA methylation profiling we compared 18 babies born with congenital ZIKV microcephaly with 20 controls. We found ZIKV-associated alteration of host methylation patterns, notably at RABGAP1L which is important in brain development, at viral host immunity genes MX1 and ISG15, and in an epigenetic module containing the causal microcephaly gene MCPH1. Our data support the hypothesis that clinical signs of congenital ZIKV are associated with changes in DNA methylation.

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.

Panel 8: Vaccines and immunology

Review and highlight of the significant advances made towards vaccine development and understanding of the immunology of otitis media

Prevalence of Motor Difficulties in Autism Spectrum Disorder: Analysis of a Population-Based Cohort

In this population-based cohort that included 2,084 children with autism aged ≤6 years, over one-third met the criteria for motor difficulties

Personalised analytics for rare disease diagnostics

Here we focus on the problem of prioritising variants with respect to the observed disease phenotype

Content validation of the Quality of Life Inventory—Disability

Satisfactory content validity is reported, where ongoing consumer feedback shaped the dataset from which the final items were selected

Low positive predictive value of International Classification of Diseases, 10th Revision codes in relation to rheumatic heart disease: a challenge for global surveillance

We outline a series of research initiatives to improve identification of RHD in administrative data thereby contributing to monitoring the RHD burden globally

Moraxella catarrhalis Restriction-Modification Systems Are Associated with Phylogenetic Lineage and Disease

We observed an association between Type III DNA methyltransferase presence and Otitis Media-associated middle ear isolates

Epigenetic dysregulation of host gene expression in Toxoplasma infection with specific reference to dopamine and amyloid pathways

Our results provide a possible functional link between Toxoplasma gondii infection and congenital/early life and adult neurological clinical signs

Evidence of functional cell-mediated immune responses to nontypeable Haemophilus influenzae in otitis-prone children

These data provide evidence that otitis-prone children do not have impaired functional cell mediated immunity