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Note: all times are CET (UTC +1)
Each workshop lasts 45 minutes and is followed by 15 minutes Q & A/discussion, and a further 15 minutes break where the workshop presenters will remain available in the breakout room.
**Speaker Biography:**Minna Ruddock (Männikkö), PhD, is Research director at the Faculty of Medicine, University of Oulu (UO) since 2015. She leads the Research infrastructure for population studies that manages large data sets such as Northern Finland Birth Cohorts (NFBC, http://www.oulu.fi/nfbc/). She received her Ph.D. degree in 1996 in Prof. Karl Tryggvason’s research group at the UO. The research group characterized the genetic defect in the congenital nephrotic syndrome (NPHS1). Her post-doctoral period in 1998-2000 was at Thomas Jefferson University (Philadelphia, USA) in Dr. Jouni Uitto’s laboratory, where she studied transgenic mouse model of a blistering skin disease. In 2000 she joined the group of Prof. Leena Ala-Kokko at the Institute of Biomedicine (OU) and was introduced to the genetics of rare cartilage diseases. She was appointed as adjunct professor (molecular genetics) in 2007. She joined the NFBC studies in 2012 as a Senior research fellow at the Institute of Health Sciences (UO). She has co-authored 92 articles in peer-reviewed scientific journals and supervised eleven doctoral theses. Her research focus is on genetic epidemiology.
Speaker Biography:
****He studied economics and has developed his professional career in the information and communication technology sector, managing highly complex projects in which different engineering groups will collaborate to deliver a service. He has also worked as a quality advisor in software development projects (CMM) and IT infrastructure management (ITIL).
In 2005, he began to collaborate with the Bellvitge University Hospital, where he led the medical image digitization project that resulted in the first digital medical imaging system in Catalonia shared by the entire reference area of a hospital, allowing seamless collaboration between he primary care and hospital health professionals. He was also the promoter of the adoption by the Hospital of interoperability requirements in the specifications for the purchase of medical devices, based in recommendations from IHE (Integrating the Healthcare Enterprise) initiative.
In 2008, he joined AQuAS as a member of a team wh the task of deploying a digital medical imaging system that communicates the entire public health system of Catalonia. The deployment of this system was completed in 2011, and from then until 2015 he was responsible for managing the service.
Since 2016, he has been dedicated to research projects based on the use of real-world data, mainly those that combine clinical variables with information obtained from medical devices (imaging modalities, ECGs, spirometers, etc.).
He has always been focused on providing accurate and timely information to the point of care. In the research field, this focus results on the design and deployment of shared IT infrastructures at European level that are able to provide high quality, customized data sets, designed and selected for specific research needs, while preserving the right of individuals to privacy. He is familiar with the issues that may arise when creating real world dataset and with the challenge of obtaining scientific evidence from this kind of data.
He has participated in the European projects INTERREG SUDOE ICTUSnet, VPH-Share, VISCERAL, Avicenna and ACT at Scale.
TwinsUK is the UK’s largest adult twin registry and the most clinically detailed in the world. It was established in 1992 by Professor Tim Spector to investigate the incidence of rheumatologic diseases. Currently, the dataset comprises over 15,000 MZ and DZ twins from across the UK, with ages between eighteen and one hundred. TwinsUK aims to investigate the genetic and environmental basis of a range of complex diseases and conditions. Current research includes the genetics of metabolic syndrome, cardiovascular disease, the musculoskeletal system, ageing, sight as well as how the microbiome affects human health. The TwinsUK cohort is now probably the most genotyped and phenotyped in the world. Most of the data is available to bona fide researchers upon request. Longitudinal clinical and demographic data are available. Omics datasets include genome-wide genotypes, epigenome and global gene expression in several tissues, metabolome, glycome, and microbiome. Images are available, too, including spine MRI and full-body DEXA scans. TwinsUK data have enabled multiple collaborations with research groups worldwide and the publication of over 700 research papers. https://twinsuk.ac.uk/
Speaker Biography:
Research Fellow at the Department of Twin Research & Genetic Epidemiology. Studied Biology and Biostatistics at Tomsk State University (Russia); obtained PhD in Genetics in Research Institute for Medical Genetics (Tomsk, Russia). Post-doctoral positions in Karolinska Institutet (Sweden), University of Oxford, Imperial College London, and Royal Brompton Hospital (UK). Research interests include genetic basis and molecular biomarkers of complex human diseases and traits, especially pain, allergy, infectious diseases and cancer. Recent studies carried out at the DTR have been devoted to genetics of back pain, chronic widespread pain, intervertebral disc degeneration, and age-related hearing loss.
