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Day by Day
| Day 1 (Friday, October 24th, 2008) |
Arrival and registration of the delegates
13:00 - 17:00
Evening free
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| Day 2 (Saturday, October 25th, 2008) |
Breakfast at hotel
Opening hours of registration desk
08:00-17:00 hrs.
| SESSION 1 (Moderator: Graham Taylor): |
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09:00 – 09:30
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Graham Taylor (Leeds, UK) / George Patrinos (Rotterdam, NL)
Welcome, introduction and course overview
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09:30 – 10:00
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Johan den Dunnen (Leiden, NL)
Gene and mutation nomenclature
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10:00 – 10:30
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Graham Taylor (Leeds, UK)
Molecular Diagnostic laboratory setting, safety and quality control issues
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10:30 – 11:00
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Coffee break
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| SESSION 2 (Moderator: Lai Pah San): |
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11:00 – 11:30
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Mireille Claustres (Montpellier, FR)
Mutation detection principles
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11:30 – 12:00
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Lai Poh San (Singapore, SG)
Mutation screening methods
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12:00 – 12:30
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Graham Taylor (Leeds, UK)
Mutation scanning methods
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12:30 – 14:45
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COMPANY LECTURE
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12:45 – 14:00
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Lunch
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| SESSION 3 (Moderator: Dicky Halley): |
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14:00 – 14:30
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Dicky Halley (Rotterdam, NL)
DNA sequencing
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14:30 – 15:00
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Johan den Dunnen (Leiden, NL)
RNA-based mutation detection
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15:00 – 15:30
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Richard Cotton (Melbourne, AU)
Enzymatic and chemical cleavage methods for mutation scanning
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15:30 – 16:00
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Mireille Claustres (Montpellier, FR)
Prenatal and pre-implantation genetic diagnosis of inherited diseases
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16:00 – 16:30
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Coffee break
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| SESSION 4 (Moderator: Johan den Dunnen): |
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16:30 – 16:50
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Peter Taschner / Ivo Fokkema (Leiden, NL)
Developing a Locus-Specific database: The LOVD and Mutalyzer suites
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16:50 – 17:10
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David Atlan (Brussels, BE)
Data analysis and integration into Laboratory Management Systems
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17:10 – 17:30
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André Blavier (Rouen, FR)
Computer-based mutation interpretation
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Evening –
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Informal Group Dinner
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| Day 3 (Sunday, October 26th, 2008) |
Breakfast at hotel
Opening hours of registration desk
08:00-17:00 hrs.
| SESSION 5 (Moderator: André Uitterlinden): |
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09:00 – 09:30
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André Uitterlinden (Rotterdam, NL)
Mutation detection using mass spectrometry
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09:30 – 10:00
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Peter Oefner (Regensburg, DE)
Denaturing High Performance Liquid Chromatography
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10:00 – 10:30
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Johan den Dunnen (Leiden, NL)
Melting curve analysis
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10:30 – 11:00
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Coffee break
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| SESSION 6 (Moderator: Richard Cotton): |
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11:00 – 11:30
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André Uitterlinden (Rotterdam, NL)
Mutation detection using the TaqMan system
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11:30 – 12:00
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George Patrinos (Rotterdam, NL)
Locus Specific and National/Ethnic Mutation databases
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12:00 – 12:30
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Richard Cotton (Melbourne, AU)
The Human Variome Project
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12:30 – 12:45
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COMPANY LECTURE
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12:45 – 14:00
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Lunch
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Afternoon practical demonstrations (4 groups of 15 participants each; Each session 45 min)
Session 1: DNA isolation (HAMILTON robot)
Session 2: DNA isolation (GENOGEN robot)
Session 3: DNA sequencing
Session 4: Genotyping using the Sequenom and TaqMan platforms
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Evening –
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Informal Networking Session
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| Day 4 (Monday, October 27th, 2008) |
Breakfast at hotel
Opening hours of registration desk
08:00-14:00 hrs.
| SESSION 7 (Moderator: Mireille Claustres): |
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09:00 – 09:30
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Ivo Gut (Paris, FR)
Pyrosequencing: Application to DNA methylation analysis
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09:30 – 10:00
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Wilfred van Ijcken (Rotterdam, NL)
Human Genome analyzers: High throughput DNA sequencing
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10:00 – 10:30
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Jeroen Demmers (Rottetdam, NL)
Application of proteomics in disease diagnostics
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10:30 – 11:00
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Coffee break
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| SESSION 8 (Moderator: Mario Tosi): |
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11:00 – 11:20
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Mario Tosi (Rouen, FR)
Detection of large deletions and duplications in the human genome
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11:20 – 11:40
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Rinie van Beuningen (Den Bosch, NL)
Mutation detection using flow-through microarray technology
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11:40 – 12:10
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Wilfred van Ijcken / Jasper Saris
Microarray-based SNP detection
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12:10 – 12:30
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Berna Beverloo (Rotterdam, NL)
Fluorescent In Situ Hybridization
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12:30 – 12:45
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COMPANY LECTURE
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12:45 – 14:00
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Lunch
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Afternoon practical demonstrations (4 groups of 15 participants each; Each session 45 min)
Session 1: Illumina SNP array platform
Session 2: Proteomics
Session 3: Molecular cytogenetics
Session 4: Illumina Genome analyzer and Affymetrix platforms
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Evening –
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Formal Group Dinner
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| Day 5 (Tuesday, October 28th, 2008) |
Breakfast at hotel
Opening hours of registration desk
08:00-11:00 hrs, 12:00-14:00 hrs and 16:00-18:00 hrs
| SESSION 9 (Moderator: Mats Nilsson): |
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09:00 – 09:30
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Jeantine Lunshof (Amsterdam, NL)
Personalized medicine: The promise of the 1,000$ genome
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09:30 – 10:00
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Cecile Jansen (Rotterdam, NL)
Predictive genomics: Reality or science fiction?
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10:00 – 10:30
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Mats Nilsson (Uppsala, SE)
Future trends: What lies beyond
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10:30 – 11:00
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Coffee break
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| SESSION 10 (Moderator: George Patrinos): |
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11:00 – 11:15
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Fellow 1
Abstract presentation
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11:15 – 11.30
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Fellow 2
Abstract presentation
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11:30 – 11:45
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Fellow 3
Abstract presentation
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11:45 – 12:00
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Fellow 4
Abstract presentation
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12:00 – 12:15
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Fellow 5
Abstract presentation
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12:30 – 12:45
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COMPANY LECTURE
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12:45 – 14:00
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Lunch
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Afternoon computer session (2 sessions with entire participants group)
Session 1: Analysing SNP data
Session 2: Developing a LSDB using the LOVD suite
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16:15 – 16:45
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Coffee break
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16:45 – 17:30
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All lecturers
Q & A session
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Delegates’ departure
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Apart from covering the basic knowledge and techniques in mutation detection, we had injected some innovative features in this year course. For example, a number of lectures devoted to whole-genome high throughput mutation screening methodologies have been added in the course agenda, in line to the recent technological advances. Also, the textbook "Molecular Diagnostics", published by Elsevier/Academic Press (ISBN 0125466617) will be provided as the course’s textbook, in addition to the regular e-syllabus.
Through the "course Q-box", present during all sessions, the participants get the chance to drop questions on any aspects discussed or missing in the course. All questions will be collected and we will try to answer as many as possible towards the end of the course (probably in 2-4 parallel sessions).
The course will be a mixture of lectures and practical laboratory demonstrations. Lectures are given in the morning, which provide an overview of the topics, describe their background and principles, show applications and place the different techniques in context. Lectures will be presented by top-level international speakers, experts in their field. To promote contacts with the participants, speakers are encouraged to stay during the entire course. The lectures are complemented by afternoon workshop sessions intended to give participants close and hands-on experience with a range of selected techniques. To promote interaction, participants follow these 4-session afternoon workshops in 4 alternating parallel subgroups. Workshops include computer sessions demonstrating software and internet possibilities for data analysis.
Although the course focuses around methods to identify sequence variants in genomic DNA (see Program), it also covers related subjects like proteomics, molecular cytogenetics, laboratory automation, gene and mutation nomenclature, mutation databases, as well as quality control. While most applications might be demonstrated in relation to human and human diseases, they should be applicable to any field of interest (including viral, microbial, plant and animal).
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