Early Career Researchers in PCD: Genotype-phenotype associations in PCD скачать в хорошем качестве

Early Career Researchers in PCD: Genotype-phenotype associations in PCD

What is this talk about? For this complex topic, we will have two PCD experts sharing their knowledge with us: Hannah Mitchison focusing on genotypes and Myrona Goutaki on phenotypes. About the speakers: Hannah Mitchison is a Professor of Molecular Medicine at University College London, working to understand the genetic basis of PCD using human genetics, model systems and functional studies, with recent focus on developing genetic therapies. Hannah leads in the UK Cilia Network, 100,000 Genomics Project GeCIP Subdomains and is a founder of the EMBO ‘CILIA’ Conference series. She co-chairs the ClinGen Motile Ciliopathy Gene Curation Expert Panel, also BEAT-PCD WP2 which aims to develop CiliaVar, the first online PCD gene variant database. She works with patient groups, including as chair of Ciliopathy Alliance and on the PCD Research science board. Myrona Goutaki is a senior clinical epidemiologist at the University of Bern, working to understand the clinical variability and disease course of PCD, using data from collaborative cohort studies. She leads the EPIC-PCD cohort that focuses on upper airway disease and its associations with lower respiratory disease in people with PCD and several other projects, which use qualitative and quantitative methodological approaches to explore important questions raised by people with PCD and the PCD scientific community. She is the co-chair of the BEAT-PCD clinical research collaboration and the chair of the paediatric respiratory epidemiology group of the European Respiratory Society.