MEDICAL GENETICS AND BIOTECHNOLOGIES APPLIED TO MEDICAL GENETICS 1

Understand the meaning of medical genetics and assess genomic variation in health and disease.

Detect and evaluate the genetic variants.

Understand meaning and role of genotype and phenotype, penetrance and expressivity, alleles and genetic loci, ploidy and zygosity. 

Incorporate the genotype within the family, showing the skills of drawing and managing the pedigree.

Assess and evaluate mendelian and non mendelian inheritance.

Interpret the role of gonadal and somatic mosaicism.

Understand the uniqueness of cancer genetics, since its onset toward its progression.

Show the basic knowledge of epigenetics.

Be familiar with the setting of genetic counselling, deepening its daily life.

Show the basic knowledge of main genetic tests and the workload of a medical genetics lab.

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

Mandatory attendance

1) The meaning of medical genetics in health and disease.

2) The human genomes: nuclear genome and mitochondrial genome. From cell to health or disease.

3) The genomic variation in health and disease .

4) The wide range of genomic variants: a) Copy Number Variants, b) Sequence Variants, c) Polynucleotide Repeat Expansions, d) Imprinting defects.

5) Genotype and Phenotype.

6) "Phenotype-first" and "Genotype-first" approaches.

7) Penetrance and Expressivity.

8) Alleles and Genetic Loci.

9) Ploidy: Haploid, Diploid, and Polyploid Sets.

10) Zygosity: a) Homozygosity, b) Heterozygosity, c) Hemizygosity, d) Monozygosity, e) Dizygosity, f) Wild-Type Homozygosity, g) Mutated Homozygosity, h) Simple Heterozygosity, i) Compound Heterozygosity.

11) Sporadic phenotype, Hereditary phenotype, Inherited phenotype.

12) The pedigree: drawing and usefulness.

12) Mendelian Inheritance: a) Autosomal Dominant, b) Autosomal Recessive, c) X-linked Recessive, d) X-linked Dominant.

13) Mitochondrial Inheritance.

14) Dynamic Mutations and Polynucleotide Repeat Expansions. 

15) Gonadal (or Germinal) and/or Somatic Mosaicism.

16) Genomic Variants and the effect on Phenotype: a) Synonymous, b) Nonsynonymous, c) Missense, d) Nonsense9o, e) In-frame CNVs, f) Frameshift CNVs, g) Splicing.

17) The meaning of Multifactorial Inheritance.

18) The role of epigenetics within human development, health, and disease.

19) Cancer Genetics and Genomics: a) Oncogenes, b) Tumor Suppressor Genes, c) Progressive genomic instability.

20) The multifaceted role of Clinical Genetics: a) Disease Diagnosis and Follow-up, b) Occurrence and Recurrence Risk Assessment for consultands, patients, and family members, c) Preconceptional, preimplantation, prenatal, and postnatal genetic counseling, d) Presymptomatic genetic counseling, e) Genetic tests appropriatedness.

21) The Medical Genetics Lab: a) Cytogenetics, b) FISH, c) MLPA, d) Cytogenomics, e) Blotting, f) PCR, g) RealTime-PCR, h) Sanger sequencing, i) Massive parallel sequencing (NGS), j) Epigenetic Signatures, k) CRISPR-Cas9

Strachan and Lucassen. Genetis and Genomics in Medicine. Second Edition, 2023, CRC press, Taylor and Francis Group.

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) Genetic tests