Cytogénétique Classique et Moléculaire Européen : formation théorique 2024-2025

This course was started by Professor Jean Paul Bureau in 1997 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 24th to March 30th, 2025 in Nîmes Medicine faculty.

Topics

Technical Aspects: 

  • Classical Cytogenetics: Cell culture techniques; Chromosome staining methods (Q-, G-, C-, R-banding); 
  • Molecular Cytogenetics: Methods and principles of Fluorescence In Situ Hybridization (FISH); CGHarray and SNParray; Application of Massively Parallel Sequencing to Cytogenetics; Optical Genome Mapping ; Databases in Cytogenetics; Laboratory quality assessment.

Clinical 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 2024; 
  • Clinical: Phenotype of common autosomal and sex chromosome 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 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 aberrations; Origin of aneuploidy; Evolution and plasticity of the human genome; Animal cytogenetics; Plant cytogenetics.