Informations du cours

This course was started by Professor Jean-Paul Bureau 25 years ago and has been held in Nîmes under his directorship until 2017. It is designed to provide advanced training in constitutional, haematological, and oncological cytogenetics to medical graduates, pharmacists, pathologists, biologists, health professionals and researchers, with an academic qualification. The students will be trained to identify genetic abnormalities for diagnosis and prognosis, and for fundamental and applied research using both classical and molecular cytogenetic techniques. The course is co- organized by E.C.A. and two French Universities

After two years of online sessions, the course resumed onsite in 2023. It will be held from March 18th to March 24th, 2024 in Nîmes Medicine faculty.

Topics

Technical Aspects: Classical Cytogenetics: Cell culture techniques; Chromosome staining methods (Q-, G-, C-, R- banding and high resolution banding); Molecular Cytogenetics: Methods and principles of Fluorescence In Situ Hybridization (FISH) and MFISH; Array CGH; Application of Massively Parallel Sequencing to Cytogenetics; Production and use of molecular probes; Database use in Cytogenetics; Laboratory quality assessment.

Medical cytogenetics: 

• Basics: Frequency of chromosome disorders; Cell cycle, mitosis and meiosis, gametogenesis; Heterochromatic and euchromatic variants; Numerical chromosome abnormalities; Structural abnormalities: translocations, inversions, insertions, deletions, rings, markers; Risk assessment for balanced abnormalities; X inactivation; numerical and structural abnormalities of the X and the Y; Mosaicism; Chimaeras; ISCN 2020; 
• Clinical: Phenotype of common autosomal and gonosomal aneuploidies; Chromosome abnormalities in recurrent abortions; Cytogenetics and infertility; Microdeletion syndromes; Uniparental disomy and its consequences; Genomic imprinting; Genetic counselling and ethical issues in cytogenetics; 
• Prenatal diagnosis: Indications, methods and interpretation; Risk assessment for chromosomal abnormalities; Non-invasive methods using foetal nucleic acids and foetal cells in maternal blood; Pre-implantation diagnosis; 
• Cancer Cytogenetics: Molecular approach to cancer cytogenetics; Predisposition to cancer, Chromosome instability syndromes; Chromosome mutagenesis; Solid tumors; Clinical application in onco-haematology.

Other topics: Genome architecture; Structure of chromatin; Structure of metaphase chromosomes, Mechanisms of chromosome abberations; Origin of aneuploidy; Evolution and plasticity of the human genome; Animal cytogenetics; Plant cytogenetics.