Erasmus Summer Programme

Masterclass: Advances in Genomics Research [ESP63]

Event highlights

Course Code

ESP63

ECTS

0.4

Date

August 13, 2018

Total hours

4

Course days

Mo-Thu

Time

4PM-5PM

Location

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 13, 2018
Genomics of Neurodegeneration
Genome-wide unbiased research strategies (based on either linkage or association) led to substantial progress in our understanding of the role of rare, highly penetrant variants, and common small-effect size variants, in the pathogenesis of common neurodegenerative disorders, such as Alzheimer’s and Parkinson’s disease.
Additional genomic determinants of disease likely remain to be identified, as known variation only explain minor fractions of disease burden. Variants of intermediate effect-size and frequency might underlie important fractions of the so-called missing heritability of these diseases, and the modern neuro-genomics offers a wide range of powerful strategies to advance knowledge in this important area for research and society.
In this lecture, I will outline the old and new genomics of neurodegenerative disorders taking Parkinson’s disease as a paradigmatic example.

Vincenzo Bonifati, MD PhD
Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands

 

 

Tuesday August 14, 2018
Causal Epi-genomics
Common diseases are characterized by widespread genomic dysregulation. Population epigenomics is well placed to study this disease mechanism but remains limited in its ability to define causal relationships. To address this challenge, we developed genome-wide methods based on Mendelian randomization. In the context of epigenome- and transcriptome-wide association studies of blood lipids, they allowed us to establish whether changes in genomic regulation observed are the cause or consequence of disease phenotypes. Furthermore, we used our methods to identify hundreds of genes as causal drivers of co-expression and co-methylation networks. I will illustrate the utility of our methods using the large-scale BIOS multiple genomics data infrastructure on >4000 individuals from 6 Dutch cohorts.

Bas Heijmans, PhD
Department of Biomedical Data Sciences, Leiden University Medical Center, the Netherlands

 

 

Wednesday August 15, 2018
Personalized (Clinical) Genetics; nowadays practice and future possibilities
Clinical Genetics is the medical specialty that deals with genetic counseling and research into hereditary diseases and congenital abnormalities. Based on the history of the disease, data from family members and a physical examination, a cause is sought for the disorder in question. Often genetic research is needed to set a diagnosis. The possibilities nowadays for this research are enormous and will be discussed. When a (genetic) cause is found, explanations can be given about the symptoms and the course of the disease. The results of the examination may be important for the treatment and/or monitoring of the patient and might have consequences for (future) children and other family members.

Robert Hofstra, PhD
Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands

 

 

Thursday August 16, 2018
X-omics in personalized healthcare
We have reached a fantastic period in science. Exponential developments in molecular technologies including next gene sequencing and mass spectrometry have enabled us to obtain increasing insights in the molecular components of human biology and their interactions. Novel personalized diagnostics and of high precision medicines that interfere with selected disease mechanisms are now driving the new paradigm of precision medicine. Even extending our ambitions towards personalized health, we now aim to translate interdisciplinary molecular research to knowledge, understanding and actionable decisions for people to maintain and/or improve their health. We are, however, rediscovering that human physiology is a highly complex system and that we need multiple viewing angles to begin to understand the complexity and identify its key nodes. Integration of various ‘omics analysis platforms through X-omics is a powerful approach towards a significant impact in personalized healthcare.

Alain van Gool, PhD
Professor Personalized Healthcare, Head Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, the Netherlands (radboudumc.nl)

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