Publications
Please find summaries of written reports of studies our researchers have contributed to. To view the entire scientific paper, please follow the links provided or email us for a copy of the research article of interest.
Establishing an Irish autism research network
In September, we published a letter to the editor of the Irish Journal of Psychological Medicine. This letter shares our experience organising and hosting a Thesis In Three event as we discuss in our interview here in our blog, 'Autism Research Thesis In Three'. In this article we have collected resources that we find useful when approaching engagement and public patient involvement (PPI) in our research. Take a look at the published letter and the supplemental materials to find out more.
Susceptibility to the common cold virus is associated with day length
Seasonal rhythms are endogenous timing mechanisms that allow animals living at temperate latitudes to synchronize their physiology to the seasons. Human viral respiratory disease is prevalent in the winter at temperate latitudes, but the role of endogenous mechanisms in these recurring annual patterns is unclear. The Common Cold Project is a repository of data describing the experimental viral challenge of 1,337 participants across the seasons of the year. We report a secondary analysis of these data to investigate if susceptibility to the common cold is associated with day length. The majority of the participants (78%) showed signs of infection but only 32% developed clinical signs of disease, and the probability of infection was significantly higher in longer day lengths (summer), but the disease was more likely in short (winter) day lengths. The persistence of winter disease patterns in experimental conditions supports the role of endogenous seasonality in human susceptibility to viral infection.
Brief Report: Evaluating the Diagnostic Yield of Commercial Gene Panels in Autism
Effective clinical diagnostics for neurodevelopmental conditions could have beneficial psychiatric and medical implications for autistic individual’s and their families. Candidate genetic variations suggested to increase one’s likelihood of autism does not apply to all autism cases. This results in the prospect of efficient diagnostics for autism being limited due to the extensive degree of both genotypic and phenotypic heterogeneity. Ní Ghrálaigh et al evaluate how marketed applications for autism diagnostics are limited due to the lack of standardized curation of gene-condition relationships in findings from research groups. To read more about their conclusions about the clinical utility of these gene panels, please read this research article.
How does genetic variation modify ND-CNV phenotypes?
This opinion article explores the current outstanding questions surrounding the clinical genomics of variants called copy number variants (CNVs) in those that carrier genetic variants that are related to neurodevelopment. Dinneen et al., discuss how common and rare types of risk variants may contribute to the varied traits and clinical outcomes associated with neurodevelopmental conditions. For more about integrated genetic variant approaches, the clinical interpretation of genetic variants and challenges in relation to future clinical translation, please follow the link below to read this recently published article.
Autism spectrum disorder genomics:
The progress and potential of genomic
technologies
As researchers are now capable of recording genomic information in the form of data, there is evidence that there is a genetic basis for neurodevelopmental conditions such as autism. This scientific paper discusses the genetic basis of autism, the progress of autism studies using genomic technologies and why these technologies are important for clinical and healthcare research.
Please contact us if you would like access to the entire paper.