B016921 - MEDICAL GENETICS

Italian

Classification of genetically determined diseases
Normal and pathological karyotype
Cytogenetic diagnosis of chromosomal diseases
Mendelian inheritance
Atypical inheritance
Multifactorial inheritance
Molecular diagnosis of monogenic diseases
Linkage analysis
Cancer genetics
Genetic testing and counseling

T. Strachan and A. Read. Genetica molecolare umana. Ed. Zanichelli
Neri - Genuardi Genetica umana e medica Ed. Edra

The student will acquire skills in the field of medical genetics focusing on the pathogenic mechanisms underlying different genetic hereditary and acquired diseases. Moreover, the student will learn the technological approaches to the identification of different genetic diseases

At the end of the course the student will know:
analyzing a pedigree;
identifying the molecular mechanisms for the transmission of hereditary diseases;
classifying the different types of mutations and discuss their role in determining pathological diseases;
recognizing the factors that determine the variability of quantitative characters and complex diseases
the molecular bases of chromosomal abnormalities
the principles of cytogenetic and molecular genetic techniques applied to genetic pathology
the basis of cancer genetics

Basic knowledges of Molecular Biology and Genetics

The course of Medical Genetics will be delivered through lectures and distance learning activities.
The distance learning activity will take place using the e-learning platform of the School of Human Health Sciences. These activities will be tracked on the platform and their performance constitutes a bonus valid for the final exam.

At the end of the course the student must:
to analyze a pedigree;
to identify the molecular mechanisms for the transmission of hereditary diseases;
to classify the different types of mutations and discuss their role in determining pathological situations;
to recognize the factors that determine the variability of quantitative characters and complex diseases
to know the molecular bases of chromosomal abnormalities
classify the principles of cytogenetic and molecular genetic techniques applied to genetic pathology
to know the genetic basis of neoplastic transformation
to use technical scientific language;
to know how to use appropriate tools and sources

The exam will be a multichoice test to check the assessment of learning. The topics of the test will reflect those covered during the course and included in the program.

Chromosomal monogenic and genomic disorders.
Classification of genetically determined diseases.
Chromosomal disorders
The normal and pathological karyotype: the number and structure of chromosomes abnormalities, microdeletion and microduplications syndromes, ISCN nomenclature,
Cytogenetic diagnosis of chromosomal diseases: karyotype analysis, FISH, CGH and array CGH.
Mendelian inheritance: autosomal dominant, recessive and X-linked
Mendel's experiments, the basic concepts of probability, family tree. Autosomal dominant inheritance with incomplete penetrance, variable expressivity, pleiotropy, germline mosaicism. Codominance: blood groups. Autosomal recessive inheritance: inbreeding, allelic and locus heterogeneity. X-linked inheritance. Examples of specific disease for each category.
Mitochondrial inheritance, genomic imprinting, uniparental disomy, anticipation and trinucleotide expanding diseases, digenic diseases.
Multifactorial inheritance
Methods for molecular diagnosis of monogenic diseases: RFLP, OLA, ASO, SSCP, HRMA, PCR, sequencing analysis and NGS MLPA and genomic rearrangements
Linkage analysis
Cancer genetics
Genetic testing and counseling:definition, genetic counseling objectives and types with particular reference to prenatal diagnosis of chromosomal and monogenic diseases