From | 2009-03-30 |
To | 2009-04-01 |
Course | The course is focused on genetic association studies and it is addressed to clinical researchers in nephrology with a special interest in genetics who are involved in studies in which patient data both on clinical characteristics (phenotype) and DNA (genotype) are available for analysis |
Venue | EuroMediterranean University Centre of Ronzano, Bologna (Italy) |
Directors | Friedo Dekker and Marion Verduijn (Leiden, Netherlands) |
Speakers | Jeffrey Barrett (Cambridge, UK), Juan Jes?s Carrero (Stockholm, Sweden), Friedo Dekker (Leiden, Netherlands), Mario Falchi (London, UK), Kitty Jager (Amsterdam, Netherlands), Gerjan Navis (Groningen, Netherlands), Martin Schalling (Stockholm, Sweden), Peter Stenvinkel (Stockholm, Sweden), Marion Verduijn (Leiden, Netherlands), Marieke de Visser (Leiden, Netherlands), Carla Vossen (Leiden, Netherlands) |
Programme | Program:
Day 1: Basis and background
12.00 - 13.30 Lunch and registration
13.30 - 13.45 General introduction of the course - Populations: case control / cohorts - Problems/questions arising in genetic association studies Lecturer: Friedo Dekker
13.45 - 16.00 Lectures on basics of genetics Including illustrations of the concepts using relevant articles 1. Genes, what are they? [Basic concepts, vocabulary, base pairs, sequence, exons, introns, DNA folding, RNA, transcription, splicing, translation…] (30 minutes) 2. Genes and human disease [Overview of role of genetics in diseases: mendelian vs complex diseases, types of genetic variations and detection methods (common vs rare variants; SNPs, CNV, in/del), inheritance patterns (Hardy Weinberg equilibrium, linkage disequilibrium)] (2*45 minutes, with 15 minutes coffee/tea in between) Lecturer: Martin Schalling
16.00 - 16.30 Coffee/tea
16.30 - 18.00 Introduction and hands on session on SNP identification How to find published SNPs, the location (rs numbers, intron/exon), functionality, Hardy Weinberg, tagging SNPs, haplotypes, linkage disequilibrium (HapMap) Lecturer: Marieke de Visser; support: Juan Jesús Carrero
18.00 - 18.30 Summary of the day in CKD perspective and focus of the course Illustration of terms and concepts that have been introduced in the previous lectures using one or more genetic CKD examples found in mouse models, family data, and finally investigated as a genetic association study. As such this lecture includes a brief/illustrative overview of the spectrum of genetic studies. Moreover, there is slightly touched upon the distinction between direct association (candidate gene) and indirect association (as performed on a large scale in whole genome scans) association studies. Lecturer: Gerjan Navis
18.30 - 20.00 Drinks and dinner Transfer from the venue to the restaurant and Social Dinner (dinner costs are included in the room fee offered by Hotel Porta San Mamolo, and not in the registration fee)
Day 2: Genetic association studies
08.30 - 09.30 Lecture on cohort studies Design and analysis (survival), using examples from the literature Lecturer: Kitty Jager
09.30 - 10.00 Coffee/tea
10.00 - 11.00 Lecture on case-control studies Design (selection of proper controls, phenotype definition) and analysis, using examples from the literature.
11.00 - 12.00 Lecture on confounding Adjustment for confounding in genetic association studies: never, or perhaps in some circumstances necessary, different for different designs? Includes the problem of population stratification. Lecturer: Friedo Dekker
12.00 - 13.30 Lunch
13.30 - 15.00 Hands on session on study design Support: Carla Vossen en Marion Verduijn (Coffee / tea available at 14.45)
15.00 - 16.00 Lecture on haplotypes, Haploview, tagging Lecturer: Marieke de Visser
16.00 - 16.30 Coffee/tea
16.30 - 17.30 Lecture on genome wide association studies Lecturer: Jeffrey Barrett
17.30 - 18.30 Lecture on QTL association studies Lecturer: Mario Falchi
18.30 - 20.00 Drinks and Dinner Transfer from the venue to the restaurant and Social Dinner (dinner costs are included in the room fee offered by Hotel Porta San Mamolo, and not in the registration fee)
Day 3: Beyond the basics
08.30 - 09.15 Lecture on Mendelian randomization Lecturer: Marion Verduijn
09.15 - 10.00 Lecture on gene-environment interaction Example of a monogenetic disorder, proper definition, other examples (gene nutrient interaction, CKD related interactions), dynamics of environment over CKD lifetime, not a fishing expedition with bad examples, methodology (additive / multiplicative interaction), and CCR5-CRP example (including a comment on obstacles in this example due to differences in phenotyping in both cohorts). Lecturer: Juan Jesús Carrero
10.00 - 10.15 Coffee/tea
10.15 - 11.00 Lecture on false positive findings, multiple testing, replication Lecturer: Friedo Dekker
11.00 - 11.45 Lecture on epigenetics including a clear link to the main topic of the course ‘genetic association studies’: what are the differences in research questions to be answer, and what epigenetics can add on top of genetic association studies. Lecturer: Peter Stenvinkel
11.45 - 12.00 Coffee/tea
12.00 - 13.00 Concluding lecture: reflection on genetic research in CKD, and future perspectives This lecture continues the final lecture on Day 1, with some clear examples of genetic studies in CKD from the past, with a reflection on the methodology that was used and the current interpretation / use of that findings; it concludes with perspectives of future genetic studies (also therapeutic expectations), including the expectations of whole genome scans and other more advanced genetic approaches in a complex disease as CKD. Lecturer: Gerjan Navis
13.00 - 14.00 Lunch and departure |