Mutation Detection Course
3rd HUGO Mutation
Detection Training Course
30th August to 3rd September 2002
Hospital and University of Montpellier, Montpellier, France
Organiser: Prof Mireille Claustres (France) Course Coordinator: Graham Taylor (UK)
Local labtime organiser: Anne-Françoise Roux (France)
Advisors: Richard GH Cotton (Australia), Johan Den Dunnen (Holland), Ann-Christine Syvänen (Sweden), Mario Tosi (France)
Mutation detection in Montpellier (from GENOME DIGEST November 2003)
With the human genome sequencing programme now entering its finishing phase, there is increasing interest in analysing, understanding and documenting the consequences of sequence variation. The HUGO Mutation Detection Training Courses have run every two years since1998.
The 3rd HUGO Mutation Detection Training Course was held in Montpellier from 30 August to 1 September 2002. The course was organised locally by Professor Mirielle Claustres and colleagues from Laboratoire de Genetique Moléculaire, CHU de Montpellier, Institut Universitaire de Recherche Clinique (IURC) with support and co-ordination provided by the HUGO office and Dr Graham Taylor from the Leeds Regional Genetics Service & CRUK laboratories.
A book based on the course material is in preparation, edited by Mirielle Claustres (Montpellier), Ian Day (Southampton), Johan Den Dunnen (Leiden) and Graham Taylor (Leeds).
These popular small courses aim to provide an overview of current technology and applications via a mixture of practical demonstrations, laboratory work and lectures. The combination of top-level speakers and laboratory demonstrations for the 3rd HUGO Mutation Detection Training Course was enhanced by excellent cuisine and a beautiful Mediterranean late summer climate.
The venue was a purpose-built training centre for hospital staff in Montpellier (Centre Dc Formation Du Personnel Hospitalier) which included a modern lecture theatre, two laboratory areas and two demonstration rooms as well as an attractive garden terrace and café that enabled a relaxed atmosphere and easy mixing of the course participants.
The participants (57 from 20 countries) had a very busy schedule, beginning with a coach trip to the course venue at 7:30 a.m. for a full day of lectures and laboratory demonstrations.
New and emerging technologies were very much in evidence, for example array technology for genotyping (Professor Ann-Christine Syvanen University of Uppsala), whose practical work included an intriguing method for dividing an array into several independent sub-arrays. Array-based comparative genomic hybridization featured strongly with a lecture and laboratory demonstrations from Professor Jan Dumanski’s group (University of Uppsala), including a high-resolution (75 kb) array of chromosome 22 sequences.
We were also fortunate to have a demonstration of a novel gene-dosage technique, the multiplex ligation-dependent probe amplification (MLPA) method by the inventor Dr Jan Schouten of MRC Holland. This method was shown to enable the amplification and quantisation of 40 fragments in a single tube, enabling the rapid detection of exon-size deletionsor the detection of supernumerary chromosomes.
But the course was designed to give a broad oversight of well established mutation detection methods, including sequencing, SSCP and HPLC, which all featured in lecture presentations as well as demonstrations. Software was also covered in the form of the Staden sequence analysis package, with James Bonfield and David Judge (LMB, Cambridge) demonstrating the mutation detection features in the latest version. Christophe Beroud (Montpellier) and Rania Horaitis (Melbourne) presented details of mutation databases and the proposed Human Genome Variation Society Mutation Data base Waystation.
As well as setting up the busy schedule, our hosts also found time to arrange a typical Camargaise evening with traditional food and drink, equestrian demonstrations and flamenco dancing. This was a late evening, but no mercy was shown and the next day started at 8 a.m.
As usual we collected feedback from the course participants, which was very positive, with an average approval rating of 8/10. Our thanks go to all those who helped to make it such a success, especially CFPH director Mr Guy Vergnes, Ann-Francoise Roux, Sylvie Tufferey, Christophe Beroud and of course the companies and research teams that provided most of the equipment.