GENETICA MEDICA III ANNO

At the end of the course, students should be able to:

Describe the types of genetic variation seen in the human genome and explain how these variations affect disease states and diversity of normal variation. Perform pedigree analysis and apply principles of inheritance in calculating genetic risk for a variety of genetic disorders and patterns of inheritance; and incorporate knowledge of population genetics to calculate genetic risk based on carrier frequency within a population. Explain and identify non-Mendelian mechanisms such as: reduced penetrance, variable expressivity, uniparental disomy, mosaicism, genomic imprinting and unstable repeat expansion. Understand the molecular basis of developmental and cancer genetics. Know the basic principles of Genetic counselling.

frontal teaching.

Should teaching be carried out in mixed mode or remotely, it may be necessary to introduce changes with respect to previous statements, in line with the programme planned and outlined in the syllabus

1. Genetic and genomic variations and their causes
   1. Concepts of polymorphism and mutation and their evolutionary significance
   2. Functional Classification of sequence mutations
   3. Costitutional and somatic mutations

2. Inheritance patterns of Mendelian and sex-linked genetic diseases
   1. Dominant, recessive and sex-linked alleles
   2. Pseusodominant and digenic inheritance
   3. Penetrance and expressivity
   4. Mosaicism
   5. Genomic imprinting
   6. Anticipation and repeat expansion diseases

3. Other patterns of inheritance
   1. Mitochondrial inheritance
   2. Polygenic and multifactorial inheritance
   3. Models of multifactorial diseases
   4. The genetic basis of complex diseases

4. Population Genetics
   1. the Hardy-Weinberg equilibrium and its deviations
   2. Founder effect and genetic drift

5. The chromosomal basis of genetic diseases
   1. Abnormalities of chromosome number and meiotic non-disjunction
      1. Turner syndrome , Down syndrome , Edwards syndrome, Patau syndrome
   2. Abnormalities of chromosomal structure
      1. Translocations, Inversions, deletions, duplications
      2. The plasticity of human genome : The copy number variants
      3. Mechanisms of of copy number variants formation
   3. Uniparental disomy
      1. Trisomic e monosomic rescue
   4. Technical approaches for chromosome structure analysis
      1. Karyotype
      2. FISH
      3. Array-CGH and SNP-array

6. Developmental Genetics
   1. Abnormalities of the signaling pathways: FGF, SSH, Wnt e TGF-β
   2. Transcription factors

7. Cancer genetics
   1. Tumor Suppressor genes
   2. Oncogenes
   3. Hereditary cancer

8. Genetic counselling
   1. Definition and principles
   2. Recurrence risk , the bayesian method

9. New techniques in molecular genetics
   1. NGS
   2. NIPT

Genetica Umana e Medica (Neri, Genuardi), seconda edizione, Elsevier

Medical Genetics (Jorde, Carey, Bamshad) fifth edition, Elsevier