Erasmus Summer Programme
Master Class: Advances in Genomics Research [ESP63]
August 15, 2016
Erasmus MC, Querido Lecture Room
In this Master Class, 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 André Uitterlinden
Monday August 15, 2016
Genome-wide association studies on social-scientific variables lead to new insights about brain anatomy and health outcomes
The success of genome-wide association studies (GWAS) on genetically complex traits crucially depends on available sample sizes. In contrast to many health outcomes, some moderately heritable social-scientific phenotypes can be cheaply and easily studied in very large samples. The genetic correlation between these social scientific phenotypes with health outcomes and brain anatomy can be exploited via proxy-phenotype analyses. The lecture will explain the basic statistical intuition of this approach and present examples from large-scale GWA studies on educational attainment and subjective well-being that identified novel genetic associations for intracranial and hippocampal volume, cognitive ability, Alzheimer’s, schizophrenia, depression, and neuroticism.
Professor Philipp Koellinger, PhD
Vrije Universiteit Amsterdam, Complex Trait Genetics &
Erasmus University Rotterdam, Erasmus School of Economics &
Social Science Genetic Association Consortium (SSGAC)
Tuesday August 16, 2016
Epigenetic profiling of the inactive X chromosome
All biological differences between women and men originate from the sex chromosomes. Some 160 million years ago, the X and Y chromosomes were very similar, but since then the Y chromosome has lost most of its genes, whereas the present X chromosome contains more than 1000 genes. Hence, the dosage of X-encoded genes needs to be equalized between female (XX) and male (XY) cells. This is achieved by random inactivation of one of the X chromosomes in female embryonic cells. A central key in this X chromosome inactivation (XCI) process is the X-encoded long non-coding RNA Xist. Following upregulation from one X chromosome, Xist spreads on the X, kicking off a plethora of epigenetic events that ultimately results in stable X-linked gene repression, which is then faithfully transmitted to all daughter cells. The XCI process is tightly coupled to development and embryonic stem cell differentiation, and provides a powerful paradigm to study epigenetic gene regulation. Here, I will present the latest insights in the epigenetic processes involved in XCI and highlight novel technologies used to unravel epigenetic landscapes.
Professor Joost Gribnau
Deptartment Developmental Biology
Erasmus MC, Rotterdam, The Netherlands
Wednesday August 17, 2016
The functional genomics laboratory – inborn errors of metabolism
Inborn errors of metabolism (=IEMs) form a considerable part of the know genetic diseases. They are of specific interest as many of these IEMs are open to treatment. That is the reason why these diseases have entered the neonatal screening in many countries. Diagnosis of IEMs traditionally is done by looking at accumulating metabolic products. These usually are the substrates of an enzyme that is dysfunctioning due to a genetic defect. Such accumulating products can be toxic for the patient and contribute to the clinical signs and symptoms. Also lack of product of an enzyme may contribute to the disease-symptoms. This masterclass show how clinicians use the knowledge of the exact gene defect in the treatment of the patient. Also this masterclass will address state of the art diagnostics for the IEMs and give examples of targeted and untargeted diagnostic techniques. The added value of the interplay between next-Gen sequencing and metabolite analyses will be demonstrated. These examples will clarify the need for functional genomics approaches.
Professor Ron A. Wevers
Professor in Clinical Chemistry, Translational Metabolic Laboratory – 830 TML, Department Laboratory Medicine
Radboud University Medical Centre, The Netherlands
Thursday August 18, 2016
Twins and Genomics
The classical twin study is a powerful heuristic in biomedical and behavioral research. Its results contributed to the awareness that variation in almost every human trait is influenced by genes. In fact, heritability estimates from twin studies encouraged the search for the responsible genetic variants. Twin studies combined with novel technologies represent a powerful approach to identify and understand the molecular pathways underlying complex traits. Here, I consider twin studies in the current era of genomics and discuss studies of the epigenome, transcriptome, and metabolome. For heritable traits, the comparison of discordant monozygotic twins gives valuable information for the inference of causality.
Professor Dorret I. Boomsma
Netherlands Twin Register
VU Univ. Amsterdam, The Netherlands
The Master Classes are open without registration or fee for participants of the Erasmus Summer Programme, the NIHES programmes, employees of the Erasmus MC University Medical Center and public at large.
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