Erasmus Summer Programme
Masterclass: Advances in Genomics Research [ESP63]
August 14, 2017
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
Monday August 14
Most researchers know the diagram where genetic variants are either common with a small effect (the area of “complex genetics”) or rare with a large effect (Mendelian, or “simple genetics”). I will introduce the exciting and highly relevant field of “simplex” genetics, i.e. variants with fairly large effects and not too low or too high frequencies. I will us our recent work combining GWAS and whole genome sequencing on Amyotrophic Lateral Sclerosis (ALS), a lethal neurodegenerative disease with a life-time risk of 1:300 as an example. Apparently, the etiology of all ALS is characterized by a disproportionate contribution of rare genetic variation. ALS is not simply a collection of unique rare diseases with a monogenetic cause nor is it a diagnostic continuum with a complex contribution of thousands of small effect factors. ALS is ‘in-between’, which I call “simplex”, which might also be true for many other human diseases.
Professor Jan Veldink, MD PhD
Professor of Neurology and Neurogenetics, Brain Center Rudolf Magnus, University Medical Center Utrecht, the Netherlands
Tuesday August 15
Introduction to Metabolomics: clinical applications
Professor Thomas Hankemeier
Leiden University Medical Center and Erasmus University Medical Center, Rotterdam, the Netherlands
Wednesday August 16
Mitochondria-related disease: a tale of 2 genomes
Mitochondrial diseases are clinically and genetically heterogeneous, often fatal diseases with hundreds of genes potentially involved, either in the mitochondrial or the nuclear DNA. Using next-generation sequencing, inherited or de novo defects in known and unknown genes are now being identified in around 70% of the patients. Subsequent functional studies in cell lines, iPSC and zebrafish have generated new insights in the pathophysiology and transmission of mitochondrial diseases. Based on this data and systems biology approaches, new options for treatment (compounds or autologous muscle stem cells) and prevention (preimplantation genetic diagnosis, mitochondrial replacement treatment) are emerging for these currently untreatable diseases.
Professor Bert Smeets, PhD
Professor in Clinical Genomics with focus on mitochondrial diseases, Director Genome Center Maastricht, Department of Genetics and Cell Biology, Maastricht University, the Netherlands
Thursday August 17
Understanding the virome in relation to patient and population health
Professor Marion Koopmans
Erasmus University Medical Center Rotterdam, the Netherlands
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.
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