MMI holds successful fifth run of Human Disease Genomics course

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MMI holds successful fifth run of Human Disease Genomics course

The MMI Course ‘Human Disease Genomics: SNPs GWAS and Next-Gen Sequencing’ took place on 27-28 June 2012.

This course introduced researchers to key strategic considerations in designing and performing gene-mapping studies. It comprised a lecture element (27 June; in the Trinity Biomedical Sciences Institute Trinity College Dublin) and a practical workshop (28 June;  in the Institute of Molecular Medicine Trinity Centre for Health Sciences St James’s Hospital).

Day 1 comprised 11 lectures plus a short talk from our major sponsor Roche. The course was attended by over 70 students and staff from the MMI partners and further afield. Topics included introductions to SNPs and haplotypes Genome-Wide Association Studies and Next-Generation Sequencing studies; with follow-up lectures on applications in the study of sensory phenotypes inflammation cancer and cardiovascular disease.

                              Picture above: Dr Derek Morris (TCD) during his lecture on Next-Generation Sequencing Study Designs to Identify 
                                                                                Rare Risk Variants for Common Diseases

Professor Evan Eichler (Howard  Hughes Medical Institute Department of Genome Sciences University of Washington – pictured right) delivered the TCD Masters in Molecular Medicine Keynote Public Lecture on  ‘New Mutations and Neurocognitive Disease‘.

Dr Denise Carvalho-Silva (European Bioinformatics Institute Wellcome Trust Genome Campus) delivered the practical workshop which took place the following day. The workshop complemented the day 1 lecture material by providing guided hands-on experience in the use of the Ensembl genome browser. The Ensembl project ( provides a comprehensive and integrated source of annotation of genome sequences. After introductions to Ensembl and the BioMart Data Mining System workshop participants examined variation information in Ensembl including sequence variants and structural variants.

Picture below: Workshop attendees

We thank all the course faculty for an excellent digest of the methodologies and applications in this very topical area of biomedical research. We acknowledge the sponsors listed below for their valued support of MMI Courses & Workshops..

For further information on this MMI course including a complete list of faculty and lecture abstracts please see here