STAGE ISSS: André Uitterlinden
Join us for the next instalment of the STAGE International Speaker Seminar Series (ISSS) with
Prof. Dr. André Uitterlinden
Professor of Complex Genetics
Head Genetic Laboratory and Human Genomics Facility
Erasmus Medical Centre
Towards implementing (complex) genetics in health care settings
Most if not all human diseases and risk factors have a genetic component, implying that variance among individuals in susceptibility, treatment response and/or progression, is determined in part by genetic variation. Human genome sequencing has uncovered hundreds of millions of genetic variants, while DNA analysis technology has progressed to allow sequencing a human genome in <24hours, and to analyze millions of SNPs in millions of DNA samples using arrays. Together with data from large longitudinal cohort studies and biobanks, in particular the array/chip technology has identified tens of thousands of genetic factors for common disease by Genome Wide Association Studies (GWAS). GWAS has led to global collaborative consortia, leading to a new scientific research culture producing robust results. World-wide several large-scale sequencing projects are now ongoing, such as the European 1 million Genomes (1MG) Project, including several nation-wide genome programs mostly based on array technology. Together, this has led to genetic information now entering the hospital clinic in a broad sense, whereby –in theory- all patients can be assessed by cheap array technology (at <$30/sample) for mutations and polygenic risk scores, next to pharmacogenetics and blood group/HLA typing for example, to help clinicians in decision making for diagnosis and treatment, and to provide self-empowerment for patients for prevention. Such a program, called GOALL (Genotyping On ALL patients) is currently established at Erasmus MC, The Netherlands. However, also outside of the (academic) hospital setting applications of using genetic information are explored, such as in population screening programs, e.g. for breast cancer. I will describe aspects of these developments, highlight examples, and provide an outlook to the future.
André Uitterlinden is Professor of Complex Genetics and head of the Laboratory of Population Genomics at the Erasmus Medical Centre in Rotterdam. His research involved identifying genetic factors for common traits and diseases (e.g., anthropometry, osteoporosis, osteoarthritis), and is now focused on implementing genetics in health care settings. In 2005 he initiated the Human Genomics Facility, one of Europe’s largest genomics facilities, which provides services for DNA isolation, genotyping, sequencing, and data analysis, and has handled millions of samples for a global client portfolio.
He initiated the widely used GWAS and sequence datasets (WES, microbiome) of two Erasmus MC cohort studies: the Rotterdam Study (25,000 elderly subjects) and the Generation R birth-cohort (n=10,000 children +15,000 parents). He (co-)initiated several global GWAS consortia (e.g. GEFOS, CHARGE, Reprogen, MiBioGen). He is PI of the strategic GOALL project within EMC (“Genotyping On ALL patients”), member of the Dutch Genome Program, and leads the “Genome of Europe” working group within the European 1 Million Genomes sequencing project. He has co-authored over 1500 papers (H-index 170), has supervised 36 PhD students, and is leading annual courses on complex genetics and genomics
CANSSI Ontario STAGE (STAGE) is a training program in genetic epidemiology and statistical genetics, housed at the University of Toronto Dalla Lana School of Public Health, and funded by CANSSI Ontario at U of T, an extra-departmental unit in the Faculty of Arts & Science that is home to the Ontario Regional Centre of the Canadian Statistical Sciences Institute (CANSSI).
Seminars are sponsored by The Hospital for Sick Children, the Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, the Ontario Institute for Cancer Research, the McLaughlin Centre of the University of Toronto, the Centre for Addiction and Mental Health, and the Ontario Cancer Institute of the University Health Network.
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