MEDICAL GENETICS THIRD YEAR

At the end of the Course the students should:

• Describe the different genetic variations of the human genome, and explain their role in health and disease. 
• Make the analysis of pedigrees and understand the principles of inheritance, for the calculation of genetic risk in a range of genetic diseases and modes of inheritance. 
• Include the items of population genetics for the calculation of genetic risk based on allelic frequency within the population. 
• Know nonmendelian mechanisms, such as decreased penetrance and variable expressivity, uniparental disomy, mosaicism, imprinting and dynamic mutations.
• Understand the molecular bases of  developmental genetics and cancer. 
• Know the principles of genetic counseling and pharmacogenetics.

If teaching will be shifted to mixed or remote mode, the needed amendments will be pursued, for the correct accomplishment of the program shown in the syllabus.

Achievement of the educational goals provided by the introductory courses: Genetics BIO/18 and Principles of general pathology MED/04

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

• New Clinical Genetics, Fourth Edition, Scion Publishing Limited, 2021
• Slides provided by the Teacher

Oral test/examination
The test will be a conversation where two-four questions will be asked by the teacher on at least two topics of the program. The test will acknowledge: i) the rate of knowledge of medical genetics; ii) the ability of problem solving within the field of Medical Genetics; iii) the clarity of speech; iv) the appropriate scientific medical wording.

The final marks will be given according to the following criteria:
29-30 cum laude: the student has a thorough knowledge of medical genetics, can quickly and correctly understand and critically analyze the provided scenarios, solving on his/her own complex issues; has brilliant communication skills, and masters scientific medical wording.
26-28: the student has a good knowledge of medical genetics, can understand and critically and straighforwardly analyze the provided scenarios, solving almost on his/her own complex issues, and shows clearly the topics with an appropriate scientific medical wording.
22-25: the student has a discrete knowledge of medical genetics, but restricted to the main topics; can critically, but not ever straightforwardly, understand and analyze the provided scenarios.
18-21: the student has the minimal knowledge of medical genetics, has a modest ability of critically understanding and analyzing the provided scenarios, and shows with a sufficient clarity the topics, but a poorly developed scientific medical wording.
Failed test/examination: the student does not show the minimal knowledge of the main topics of the Course. The ability of using the scientific medical wording is very poor or absent, and cannot apply on his/her own the acquired knowledge.

1. Autosomal dominant inheritance
2. Autosomal recessive inheritance
3. X-linked inheritance
4. Mitochondrial inheritance
5. Dynamic mutations
6. Imprinting
7. Missense variants
8. Nonsense variants
9. Frameshift variants
10. Chromosomal anomalies
11. Multifactorial inheritance
12. Penetrance
13. Expressivity
14. Genetic counseling
15. Prenatal diagnosis techniques
16. Genetic tests