Mutation and SNP´s, detecting changes in DNA;
current and future possibilities

Course Date: 24-27 June 2008, Breda (NL)    Last update: 17-03-08

Aim of the course:

In the fields of biology and medicine, the efficient and cost-effective detection of changes in DNA is becoming more and more important. Application include both mutation analysis  in (disease) genes and the high-throughput screening of SNP's (Single Nucleotide Polymorphisms) in genome-wide association studies. 

In this international short-course we aim to introduce the theoretical and practical knowledge of a wide variety of DNA and RNA mutation analysis techniques, to show their strong and weak points and to discuss the differences between screening (confirmation) and scanning (searching) approaches. Participants should be able to directly apply the knowledge gathered in both research and diagnosis. 

The course includes both low and high-throughput techniques, discussed by state-of-the-art experts and with open eye to new forthcoming technologies.

 

Participants:

This course has been developed for researchers and laboratory technicians involved in molecular biological research for biomedical, diagnostic, scientific and industrial laboratories, and all others who are planning to work on mutation and SNP analysis.

The participants should have a basic knowledge on molecular biology, in particular of DNA and RNA. For the practicals no specific experience is required, but some knowledge of the basic DNA technologies is desirable.
 

Course structure:  

This four-day short-course consists of a series of practical sessions interspersed with lectures and tutorials. 50% of the time is devoted to lectures and 50% is spent on "hands-on" experiments, covering techniques that may be directly applied in research and biomedical diagnostic laboratories. All participants will receive a practical manual containing all used protocols. 
 

Course content and lectures:

Day 1: Qualitative detection techniques for mutations and SNP's

Mobility shift assays; DHPLC, DGGE, TGCE, and CSCE
Dr. S. Beiboer, Hogeschool Leiden, Leiden
High resolution melting (HRM)
Dr. O. Bakker, AMC, Amsterdam
Mutation detection in modern diagnostics, validation and certification
Prof. dr. B. Bakker, Laboratory for Diagnostic Genome Analyses (LDGA), LUMC, Leiden

Day 2: Quantitative detection techniques for mutations and SNP's

Detecting copy number changes in genomic DNA; MLPA and SNP-arrays and CGH-arrays
Dr. C.L. Hrteveld, Human Genetics, LUMC, Leiden
Real-time quantitative Pyrophosphorolysis-activated polymerization (PAP)
R. Vossen, BSc, LUMC
Detection of molecular markers in plant breeding
speaker to be announced

Day 3: The power of new sequencing techniques (LUMC, Leiden)

Pyrosequencing
Dr. T. van der Straaten, LUMC, Leiden
Array based-Re-sequencing
Dr. R. Florijn, IOI, KNAW, Amsterdam
The new sequencing techniques: Solexa (Illumina), Applied Biosystems, 454 Sequencing
Dr. J.T. den Dunnen, LUMC, Leiden

Day 4: Analysis of nucleotide variation

Finding one’s way in the human genome using genome browsers
Dr. M. van Driel, The Netherlands Bioinformatics Centre (NBIC), Nijmegen
Evaluating mutations: “pathogenic or not?”; incl. splicing, amino acids conservations a.o.
Dr. P. Taschner, Department of Human Genetics, LUMC, Leiden

Course staff: