Skip to content

Search

Showing results for "vitamin d asthma"

Changing the focus of cerebral palsy

Cerebral palsy is not only the result of birth trauma and the lack of oxygen supply during delivery.

Evaluating the genetic contribution to rheumatic heart disease pathogenesis in Australian Aboriginal and Torres Strait Islander communities

We are conducting a genetic study to better understand why some people are susceptible to RHD and others are not.

Are you listening? The inaugural OMOZ Workshop - towards a better understanding of otitis media

Are you listening? The inaugural OMOZ Workshop - towards a better understanding of otitis media

Linking MECP2 and pain sensitivity: the example of Rett syndrome

This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.

Children with secondary care episodes for otitis media have poor literacy and numeracy outcomes: A data linkage study

We examined the association between otitis media and educational attainment in a retrospective population cohort of Western Australian children who participated in the Grade 3 National Assessment Program—Literacy and Numeracy in 2012.

Mapping malaria by sharing spatial information between incidence and prevalence data sets

As malaria incidence decreases and more countries move towards elimination, maps of malaria risk in low-prevalence areas are increasingly needed. For low-burden areas, disaggregation regression models have been developed to estimate risk at high spatial resolution from routine surveillance reports aggregated by administrative unit polygons.

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