August 31st - Registration

September 1st - September 4th: Lectures in the morning, practical demonstrations in the afternoon. Evening dinner will be served in four different style restaurants throughout Leiden. The time schedule is not yet fixed precisely but the last day will finish with a computer session afternoon. In that case finishing around 16.30 seems feasible, with those interested getting the opportunity to work until 17.30.

Confirmed speakers

• Dr. J.T. den Dunnen (Leiden, Netherlands)
• Dr. Graham Taylor (Leeds, UK)
• Prof. Mireille Claustres (Montpellier, France)
• Prof. Richard G.H. Cotton (Melbourne, Australia)
• Prof. Mario Tosi (Rouen, France)
• Dr. Mats Nilsson (Uppsala, Sweden)
• Dr. Claire Taylor (Leeds, UK)
• Dr. Ivo Gut (Paris, France)
• Prof. Sue Povey (London, UK)
• Dr. Chris Mattocks (Salisbury, UK)
• Dr. Jan Dumanski (Birmingham, AL, USA)
• Dr. David Bonthron (Leeds, UK)
• Dr. Chris Mattocks (Salisbury, UK)
• Martin Oti (Nijmegen, Nederland)
• Dr. Peter Taschner (Leiden, Nederland)
• Dr. Alison Coffey (Sanger Institute, UK)

Lectures (morning)

• Introduction, course overview and mutation nomenclature
    Dr. Johan den Dunnen (Leiden, Nederland)
• Frequency and nature of mutations, and the methods to detect them
    Prof. Mireille Claustres (Montpellier, France)
• Mobility shift assays (1)
  incl. DGGE, TGCE, CSCE
    Dr. Chris Mattocks (Salisbury, UK)
• Mobility shift assays (2)
  incl. F-SSCP, DHPLC, MCA
    Dr. Claire Taylor (Leeds, UK)
• Detection of mutations by DNA sequencing
    Dr. Alison Coffey (Sanger Institute, UK)
• Gene dosage methods for the detection of deletions and duplications
  incl. PFGE, MLPA, arrayCGH, SNP chips
    Prof. Mario Tosi (Rouen, France)
• Future developments; scanning the horizon
    Dr. Mats Nilsson (Uppsala, Sweden)
    reserve Dr. Johan den Dunnen (Leiden, Nederland)
• Applications of genomic microarrays
    Dr. Jan Dumanski (Birmingham, AL, USA)
• Enzymatic and chemical cleavage methods for mutation scanning
    Prof. Richard Cotton (Melbourne, Australia)
• Genotype and phenotype; the consequence of mutations
    Dr. David Bonthron (Leeds, UK)
• High throughput genotyping systems
    Dr. Chris Mattocks (Salisbury, UK)
• DNA methylation
    Dr. Ivo Gut (Paris, France)
• Gene nomenclature
    Prof. Sue Povey (London, UK)
• Mutation databases and the Human Variome Project
    Prof. Richard Cotton (Melbourne, Australia)
• Using RNA to detect mutations (incl. PTT)
    Dr. Johan den Dunnen (Leiden, Nederland)
• Quality control in the DNA diagnostic laboratory
    Dr. Graham Taylor (Leeds, UK)
• Finding one's way in the human genome sequence
  incl. afternoon computer session
    Martin Oti (Nijmegen, Nederland)
• Evaluating mutations; pathogenic or not
  incl. afternoon computer session
    Dr. Peter Taschner (Leiden, Nederland)
• Course Q-box; answers to questions raised
    all tutors

Practical demonstrations (afternoon)

• Laboratory
  • Detecting one-in-a-million; Pyrophosphorolysis-Activated Polymerisation
    

    ServiceXS (Nederland) www.ServiceXS.com

  • High-resolution Melting Curve Analysis (hrMCA)
    

    Idaho Technology Inc. (USA) www.IdahoTech.com BIOKE (Nederland) www.BIOKE.nl

  • Denaturing Gradient Gel Electrophoresis (DGGE)
    

    Ingeny (Nederland) www.Ingeny.com

  • SNPWave
    

    KeyGene (Nederland) www.KeyGene.com

  • Array-based mutation detection; Flow-Through Micro-array technology
    

    PamGene (Nederland) www.PamGene.com

  • SNP detection using Plexor technology
    

    Promega (Nederland) www.Promega.com

  • Mitochondrial in situ SNP-typing
    

    Mats Nilsson (Sweden) / Ton Raap (Nederland)

  • Custom design Multiplex Ligation-dependent Probe Amplification (MLPA)
    

    ServiceXS (Nederland) www.ServiceXS.com

  • Detecting 1500-plex copy number variation using bead technology
    

    Stefan White & Johan den Dunnen (LGTC/LUMC, Nederland) www.LGTC.nl

  • Sequence data analysis (DNA sequencing)
    

    David Atlan, PhenoSystems (België) www.PhenoSystems.com

  • Experimental strategies for mutation discovery and SNP analysis on the LightCycler® 480 System
    

    Dr. Michael Hoffmann (Roche Diagnostics, Deutschland) www.Roche.com

  • Detecting copy number variation using MAQ (Multiplex Amplicon Quantification)
    

    Jurgen Del-Favero, VIB Genetic Service Facility (Antwerpen, België) www.VIBGeneticServiceFacility.be

  • CEL I based mismatch cleavage; the Surveyor assay

  Transgenomic (USA) www.Transgenomic.com

  • Conformation Sensitive Capillary Electrophoresis (CSCE)

  Erik Sistermans, DNA Diagnostiek Nijmegen (Nijmegen, Nederland) www.DNADiagnostiekNijmegen.nl



• Computer
  • Genome browsers; finding one's way in the human genome sequence
    

    Martin Oti (RUN, Nijmegen, Nederland)

  • Mutalyzer - evaluating mutations; pathogenic or not
    

    Peter Taschner (LUMC, Leiden, Nederland) www.HumGen.nl/mutalyzer

  • Creating an LSDB; the Leiden Open source Variation Database (LOVD)
    

    Ivo Fokkema (LUMC, Leiden, Nederland) www.LOVD.nl

  • Computer exercises in relation to the course
    

    Peter Taschner / Johan den Dunnen (LUMC, Leiden)