509948 - GENES AND GENOMES

Module 1 - Fundamentals of Genetics and the Human Genome
Organization of the human genome; chromosomes, karyotype, nuclear and mitochondrial DNA.
Central Dogma (transcription, RNA maturation, translation); gene structure (exons, introns, promoters, enhancers, silencers); alternative splicing; coding and non-coding RNA.
Alleles and genetic variability (common and rare variants);
Mendel's laws (homozygosity, heterozygosity, hemizygosity) and exceptions (incomplete dominance, codominance, epistasis, pleiotropy); modes of inheritance (autosomal dominant/recessive, X-linked, Y-linked, mitochondrial).
Module 2 - Genomic Variants and Interpretation with ACMG Criteria
Classification of variants: chromosomal mutations (deletions, duplications, inversions, translocations, ring/isochromosomes, dicentric), genomic mutations (aneuploidies, polyploidies), SNPs, indels, CNVs, and structural variants.
Single nucleotide/indel variants: missense, nonsense, frameshift, splice-site, promoter, enhancer.
Pathogenetic mechanisms: loss-of-function, gain-of-function, dominant-negative, haploinsufficiency, toxic gain-of-function.
ACMG variant classification: pathogenic, likely pathogenic, VUS, likely benign, benign.
Module 3 - Cytogenetics and Genomics
Karyotype preparation and chromosome banding.
FISH; array-CGH; SNP-array.
Module 4 - Genomics and Next-Generation Sequencing
Sanger sequencing;
NGS technologies; coverage, depth, alignment, and variant calling (concepts).
Genomic approaches: gene panels, WES, WGS (advantages, limitations, and specific technologies).
Module 5 - Case Studies
Real-world examples focusing on the genetic alteration, diagnostic technique, and genomic approach.