Course Information

MMI Course - Human Disease Genomics: SNPs, GWAS and Next-Gen Sequencing

Title: MMI Course - Human Disease Genomics: SNPs, GWAS and Next-Gen Sequencing

Date(s): 22-23 June 2010

Main Venue:
Institute of Molecular Medicine
Trinity Centre for Health Sciences, St James's Hospital, James's Street, Dublin 8

Location »

Online Application Period: 17 May - 14 June 2010

Read a report of the Human Disease Genomics course here

IMPORTANT: This course comprises a lecture element (Day 1) and a practical workshop (Day 2). Please note that there is a limited number of places available for the practical workshop.

Quicklink to items
on this page:

The analysis of genetic determinants in human disease, particularly in multifactorial conditions such as cardiovascular disease, diabetes and schizophrenia, has advanced considerably in recent years due to the availability of high-density maps of Single Nucleotide Polymorphism (SNP) markers, new insights into human genome structure from the International HapMap Project and novel analytical methods. This course, running over two days, aims to introduce researchers to key strategic considerations in designing and performing gene-mapping studies. A one-day lecture course (Tue 22 June) will introduce SNPs and haplotypes, genetic association and study design, genome-wide association studies and the use of next generation sequencing technology. This will be followed by talks focusing on applications in various disease areas.

Lecture course Fees (does not include Workshop)

Academic Rate: No Charge
Non-academic rate: 300 Euros

The registration charges do not include accommodation or travel.
Please contact education@molecularmedicineireland.ie for further information

MMI has developed a Technology Platform Web-Portal, with the input of the research community, to promote and showcase the breadth of Technology Platforms and associated expertise in our partner institutions and collaborators. The Web-Portal provides details on how technologies can be accessed. If you have a Technology Platform that is not currently on the Web-Portal, you can upload your information electronically via the link on the left.

	LECTURES: Tue 22 June; 0945-1730
0945	Introduction to SNP's and Haplotypes Dr Ross McManus (TCD)
1015	Genome-Wide Association Study Design Prof Denis Shields (UCD)
1100	Following-Up Genome-Wide Association Studies Dr Ric Anney (TCD)
1130	Coffee/Tea
1200	Copy Number Variation and Structural Rearrangements Dr Sean Ennis (UCD)
1230	Sponsor Keynote - 454 Sequencing: Applications in Human Disease Research Andrew Livingston (Roche Diagnostics)
1310	Lunch
1400	Using Next-Generation Sequencing to Interrogate the Genome Prof Brendan Loftus (UCD)
1430	Using Next-Generation Sequencing to Identify Rare Variants: Applications in Schizophrenia Research Dr Derek Morris (TCD)
1500	SNPs and Next-Generation Sequencing in the Study of Single Gene Disorders: Applications in Study of Sensory Phenotypes Dr Sean Ennis (UCD)
1530	Coffee/Tea
1600	How We Can Use Modern Transcriptomic Methodologies to Gain Insights into Cancer Dr Adrian Bracken (TCD)
1630	HRB - TCD Doctoral Programme in Molecular Medicine Keynote Public Lecture: Rare and Common Variants in Human Disease Prof B. David Goldstein (Duke Institute for Genome Sciences & Policy)
	Back to top
	Click here for abstracts

Workshop: Wed 23 June

A practical workshop on the following day (Wed 23 June) is delivered by a representative from the Ensembl project (http://www.ensembl.org). The Ensembl project provides a comprehensive and integrated source of annotation of genome sequences. The workshop will provide participants with guided hands-on experience in the use of the Ensembl genome browser and the necessary background information to make best use of this online resource. There will be a focus on the analysis of genetic variation that will complement the day 1 lecture material. You must apply online to attend the lecture course before applying for this workshop. There is no charge for academic attendees.

Those attending the workshop should have some prior experience in using web based sequence databases such as Ensembl, Golden Path (UCSC), etc. Places on the workshop are limited and there is likely to be a high demand. After applying online to attend the lectures (22 June), please send an email to education@molecularmedicineireland.ie to express your interest in attending the workshop. Please include your name, email address, and a few lines on why you want to attend the workshop and how it will be useful in your research.

More details of the Workshop here

Course Faculty
Dr Ric Anney (Institute of Molecular Medicine, St James's Hospital, TCD)
Dr Adrian Bracken (Smurfit Institute of Genetics ,TCD)
Dr Sean Ennis* (Our Lady's Hospital for Sick Children and School of Medicine & Medical Science, UCD)
Prof B. David Goldstein (Duke Institute for Genome Sciences & Policy)
Prof Brendan Loftus* (UCD Conway Institute of Biomolecular & Biomedical Research)
Dr Ross McManus* (Institute of Molecular Medicine, St James's Hospital, TCD)
Dr Derek Morris* (Institute of Molecular Medicine, St James's Hospital, TCD)
Prof Denis Shields* (UCD Conway Institute of Biomolecular & Biomedical Research)