Erasmus Summer Programme
Masterclass: Advances in Genomics Research [ESP63]
August 12, 2019
Erasmus MC, Querido Lecture Room
In this Masterclass, timely topics in genomics research will be addressed. Four renowned researchers will address the latest developments in epigenetics, forensic genomics, personalized medicine, whole genome sequencing, and new genetic variants.
Moderator Professor André Uitterlinden, PhD
The Masterclasses are open without registration or fee for participants of the Erasmus Summer Programme, the NIHES programmes, employees of the Erasmus University Medical Center and public at large.
Monday August 12, 2019
Insights into biological and reproductive ageing from human genetics
Advances in human genetics approaches over the past decade have led to a rapid increase in the identification of genes and biological mechanisms governing health and disease. My lecture will first focus on the impact such studies have had on our understanding of reproductive ageing, particularly puberty timing and fertility. I will then discuss the relevance of reproductive ageing to biological ageing and broader health outcomes.
Professor John Perry
MRC Epidemiology Unit, University of Cambridge, UK
Erasmus MC, Rotterdam, The Netherlands
Tuesday August 13, 2019
Genomic analysis in routine cancer diagnostics and treatment
Cancers are clonal proliferations of cells with DNA aberrations (mutations). Mutations in specific genes serve as drivers of the oncogenic process i.e. are causally involved in the transformation of a normal cell into a tumor cell. The last years, detection of specific mutations in tumors has gained increased importance both with regard to diagnostics and treatment of malignancies. Reliable and sensitive detection of mutations in routine pathology specimens (tissue biopsies) and in bodily fluids (liquid biopsies) are now regularly performed in patient care. Theoretical background and practical implementation of these mutation analyses will be addressed and their value in current patient management will be demonstrated.
Professor Winand N.M. Dinjens, PhD
Clinical Scientist in Molecular Pathology
Prof. Molecular Diagnostic Pathology, Head Molecular Diagnostics Pathology
Erasmus MC, Rotterdam, The Netherlands
Wednesday August 14, 2019
The genomics of breast cancer susceptibility
We now know that a large number of DNA variants, with population allele frequencies ranging from very rare to very common, jointly act to modify breast cancer risk. Rare variants affect the coding regions of 12 genes, while common variants comprise over 300 SNPs and indels, mostly in non-coding regions of the genome. Jointly, they explain approximately 60% of the risk conferred by family history of the disease. Together with family history and known non-genetic factors such as lifestyle, mammographic density, these variants can be integrated into increasingly accurate breast cancer risk prediction models.
Professor Peter Devilee
Leiden University Medical Center, Leiden, The Netherlands
Thursday August 15, 2019
The time for personalized medicine is now
Pharmacogenomics is the study of genetic variability affecting an individual’s response to a drug. Its use allows personalized medicine and reduction in ‘trial and error’ prescribing, leading to more efficacious, safer and cost effective drug therapy. Technical developments have moved the field from reactive genotyping to a pre-emptive panel approach: in this latter approach patients are tested for a panel of genetic variants even before drug prescribing has taken place. When these data are included in a patient’s electronic medical record, this allows physicians and pharmacists to use this information at time of drug prescribing and medication surveillance.
Due to its highly developed infrastructure, The Netherlands healthcare system is at the forefront of implementing pharmacogenomics into routine clinical practice. Pre-emptive testing of f.e. DPYD before use of 5-fluorouracil or capecitabine and of TPMT before use of 6-mercaptopurine or azathioprine is standard in many centers in The Netherlands and patient’s drug dosages are personalized based upon the pharmacogenomics test result.
Recently, an EU Horizon2020 project Ubiquitous Pharmacogenomics (U-PGx) was funded and investigates the approach of pre-emptive panel testing using a randomized clinical trial design in 7 EU countries and including a total of 8,100 patients. Feasibility, health outcome, especially the reduction of adverse drug events, and cost-effectiveness will be studied. The U-PGx consortium ultimately aims to formulate European strategies for further improving implementation of pharmacogenomics.
Professor Henk-Jan Guchelaar
Dept of Clinical Pharmacy & Toxicology, Leiden Network of Personalised Therapeutics, Leiden University Medical Center, Leiden, The Netherlands