ESHG 2020.2 Virtual Event

Dr. Luca Quagliata, Senior Director of Medical Affairs, Thermo Fisher Scientific

We’ve made it to our mission to help our customers make the world healthier, cleaner and safer; especially in today’s pandemic with COVID-19 spreading across the globe leaving devastating effects. We’ll be sharing our latest innovations developed in partnership with our customers to accelerate human genetic research, solving complex challenges, fuelled by changing the paradigm of how diseases are diagnosed and treated.

Dr. José Luis Costa, Affiliated Researcher of Genetic Dynamics of Cancer Cells, Ipatimup, Portugal

The RASopathies are a class of developmental disorders caused by germline mutations in several genes that encode components or regulators of the Ras/MAPK pathway. Taken together, these disorders are one of the largest known groups of malformation syndromes, affecting approximately 1 in 1,000 individuals. The diagnosis of such disorders is particularly difficult to perform in utero and in the first years of life, as most features manifest later during childhood. Therefore, molecular analysis has become an important key for the verification of clinical research and represents a highly informative prognostic tool. Here we test the Ion Torrent Genexus System in combination with a custom designed Ion AmpliSeq gene panel to research RASopathies both in pre-natal and post-natal settings.

Prof. Carl S. Goodyear, Professor of Translational Immunology, Institute of Infection, Immunity and Inflammation, College of Medical, Veterinary and Life Sciences, University of Glasgow, UK

Rheumatoid arthritis is the commonest autoimmune inflammatory polyarthritis; causing pain, stiffness and disability, and is associated with significant co-morbidity and premature mortality. Current therapies have made a substantial impact on patient well-being, but few attain low disease activity or clinical remission. With the ability to evaluate the TCR and BCR repertoire via NGS, it is now possible to characterise unique attributes of immune response associated with this disease. With this comes the potential of novel biomarker discovery for disease stratification and therapeutic targets, including those caused by infectious agents like SARS-CoV-2.

Richard Pither, PhD, CEO, Cytox Ltd., Oxford, UK

The development of diagnostic tools to identify Alzheimer’s Disease (AD) risk at the early, pre-symptomatic stages is essential in the selection of subjects for clinical trials and ultimately, for optimising clinical intervention. The utility of Polygenic Risk Score (PRS) is gaining attention for estimating individual genetic risk and disease risk prediction in AD. Cytox, in collaboration with Cardiff University, are developing leading PRS algorithms into SNPfitRTM, a proprietary analytical software platform to enable an understanding genetic risk at the earliest stages.