Asthma, Author Interviews, Genetic Research, Nature / 28.02.2020 Interview with: Zbigniew Zasłona PhD Luke A. J. O’Neill PhD Professor (Chair of Biochemistry) School of Biochemistry and Immunology Trinity Biomedical Sciences Institute Trinity College Dublin, Dublin, Ireland What is the background for this study? Response: Asthma is the most common disease in childhood and the most common respiratory condition in Ireland. It is a disease of environmental and genetic components. It is important to point out that although Ireland has very good air quality, asthma prevalence is very high (the second highest in Europe), and although asthma is not a single gene disease (such as cystic fibrosis) it is very important to study genetic variations in Irish population. Therefore in this study we put emphasis on the genetic component of asthma, rather than environmental factors, especially given that asthma heritability has been estimated as high as 60%. Prevention of asthma by reducing exposure to common risk factors, such as air pollution, will not stop the asthma epidemic in Ireland, as inferior air quality is not an issue. (more…)
Author Interviews, Macular Degeneration, Ophthalmology / 08.08.2019 Interview with: Matthew Campbell, PhD Smurfit Institute of Genetics Trinity College Dublin Dublin What is the background for this study? What are the main findings? Response: Age related macular degeneration (AMD) is the most common form of central retinal blindness in the world. However the underlying causes and initiating factors for disease progression are still not clear. It is classically a disease of the outer retina, where cells called retinal pigment epithelial (RPE) cells degenerate. However, our findings suggest that some of the early initiating events that promote AMD progression are actually coming from the inner retina and more specifically the microvasculature of the inner retina. We discovered that a gene called claudin-5 appears to be regulated by a circadian rhythm that in turn can regulate what gets into and out of the retina on a daily basis. Dysregulating the levels of this component made the inner retinal blood vessels marginally leaky and promoted a pathology that was AMD-like in animal models.  We also showed that the blood vessels of the retina appear to be highly dynamic in human subjects and can appear leakier at different times of the day, likely a mechanism that allows for clearance and replenishment of material into and out of the retina.  It is this process we believe breaks down in early AMD.  (more…)