Learning objectives
To provide the bases for the understanding of the main disorders with a genetic, genomic or chromosomal basis with a pediatric onset
Prerequisites
Preliminary knowledge of:
• DNA structure and replication
• Chromosome structure and human karyotype
• Gene structure, transcription and maturation of the mRNA.
• Protein structure. Structure and function of the enzymes
• Phenotypic variation at the cellular, tissue and individual level
• Genetic polymorphisms
• Mendelian inheritance in man
• Principles of population genetics
• Mutations as cause of variability
• Gene mutations. Types, location and genetic analysis
• Molecular mechanisms of the genetic mutations and their consequences for the synthesis and structure of the proteins
• Chromosomal aneuploidies and their pathogenetic mechanism
Course unit content
Applications of Medical Genetics ot the Pediatrics: the genetic diseases with pediatric onset
Full programme
- Examples of autosomal dominant diseases:
The rasopathies, definition and main clinical pictures
- Examples of multisystemic diseases:
i. Neurofibromatosis type 1 (diagnostic criteria and follow-upCriteri diagnostici e follow-up)
ii. Neurofibromatosis type 2 (diagnostic criteria and follow-up)
- Examples of autosomal recessive diseases:
a. Cystic fibrosis: genotype/phenotype correlation and concepts about residual risk after genetic testing
b. Congenital deafness: syndromic and non-syndromic forms
- Examples of X-linked diseases:
a. Fragile X s.
- Chromosomal aneuploidies and main clinical pictures
- Microdeletion/microduplication s.:
a. Cri-du-chat s.,
b. Wolff Hirschhorn s.,
c. Di George s.,
d. Angelman s.,
e. Prader Willi s.,
f. Williams s.
g. Smith Magenis s.
- L'esoma nelle malattie non diagnosticate
Bibliography
G. Neri e M. Genuardi: GENETICA UMANA E MEDICA. Elsevier Masson ed., V edizione, 2024
Thompson & Thompson: GENETICA IN MEDICINA. Masson, 2018
Teaching methods
Lectures
Assessment methods and criteria
Multiple choice questionnaries
Other information
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