Oncology and medical genetics applied to midwifery

Module Medical Genetics

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.

Front lessons.
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 learning goals included in the introductory courses, such as the cornerstones of biology and genetics.

Mandatory attendance

1) Genetic and Genomic Variations, and their causes

a. Wild type sequence, mutation and variant
b. Classification of variants on frequency, size, seat, and effect
c. Classification of variants’ pathogenicity according to ACMGG
d. Nomenclature of variants according to HGVS

2) Genetic Loci, Alleles and Population Genetics

a. Meaning of allele
b. Homozygous, Heterozygous and Hemizygous
c. Dominant and recessive
d. Allelic frequencies
e. Law of Hardy-Weinberg
f. Population Genetics
g. Founder effect, genetic drift, natural selection

3) Mendelian patterns of inheritance

a. Pseudodominant and digenic inheritance
b. Penetrance and espressivity
c. Mosaicism
d. Genomic imprinting
e. Dynamic mutations and Anticipation

4) Further kinds of inheritance

a. Mitochondrial inheritance
b. Polygenic and Multifactorial inheritance
c. Models of multifactorial diseases
d. Genetics of complex diseases

5) Chromosomal cornerstones of genetic diseases

a. Aneuploidies and non dysjunction (Turneŕ, Down, Edwards, Patau, and Klinefelter syndromes)

b. Structural Anomalies

i. Translocations, Inversions, Deletions, Duplications
ii. Plasticity of human genome: Copy Number Variants (CNVs)
iii. Kickoff of CNVs

c. Uniparental Disomy

i. Trisomic and monosomic rescue

d. Chromosomal analysis

i. Karyotype
ii. FISH
iii. Array-CGH and SNP-array

6) Developmental Genetics

a. FGF, SSH, Wnt and TGF-β pathways
b. Transcription factors

7) Genetics of Cancer

a. Oncosuppressor Genes
b. Oncogenes
c. Inherited Cancer 

8) Genetic counseling

a. Meaning and Principles
b. Recurrence risk, Bayesian method

9) New techniques of molecular genetics

a. Massive parallel sequencing, and its use in genetic diagnosis

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 abnormalities
11. Multifactorial inheritance
12. Penetrance
13. Expressivity
14. Genetic counseling
15. Techniques of prenatal diagnosis