2015/2016

2019/2020

DM270

MED/03 (GENETICA MEDICA)

DIPARTIMENTO DI MEDICINA MOLECOLARE

MEDICINA E CHIRURGIA (IN LINGUA INGLESE)

PERCORSO COMUNE

5°

Secondo Semestre (02/03/2020 - 05/06/2020)

2

16 ore di attività frontale

English

SCRITTO

VALENTE ENZA MARIA - 2 CFU

Concepts of normal and disease. From the gene to the phenotype. Types of heredity. Classical mendelian genetics. Stucture and functions of chromosomes, abnormalities of number and structure of chromosomes. Dinamic mutations. Mitochondrial genetics. Concepts of epigenetics. Pedigree drawing.

1) to learn how to use common, freely available online databases (clinical databases, disease databases, population databases etc) to aid in the diagnosis of genetic cases, and in the interpretation of results of genetic testing.; 2) to understand the ethics issues related to genetic testing in diagnosis and research; 3) to know the recent progresses in developing therapeutic strategies for genetic diseases, including gene editing, RNA-based and stem-cell based therapies

1) Common strategies for molecular diagnosis of genetic diseases. Concepts of next generation sequencing technologies. Concept of mutation and variant, classification of variants. Significance and use of principal databases: sequence databases (NCBI, Ensembl etc); population databases (gnomAD, EVS, dbSNP etc), disease databases (OMIM, ClinVar, Decipher, LOVD etc).
2) Ethics in medical genetics. Privacy issues when dealing with genetic data / genetic testing – how to appropriately consent a patient and family for diagnostic / research genetic testing (and biobanking); ethics implications of incidental findings emerging from NGS-based diagnostic testing (such as whole exome / whole genome sequencing); ethics implications of prenatal and preimplantation diagnosis; implications of presymptomatic testing for fully penetrant late onset diseases (such as Huntington disease, familial dementia etc) and psychological issues.
3) Therapeutic strategies in genetic diseases. Strategies to treat metabolic diseases (substrate reduction, chaperons, increase of enzymatic activity, synthetic enzymes/compounds etc); Innovative RNA-based therapies; Immunotherapy (cancer, neurodegeneration); Stem cell-based therapies (somatic stem cell theraphy, drug develpment using stem cells, pluripotent stem cells, ...); DNA editing-based strategies.

Lectures; practical tutorials of the use of common online databases. Interaction between teacher and students will be encouraged.

Slides will be distributed, as well as articles and reviews related to the discussed topics.

written exam with multiple choice questions

The possibility of attending genetic clinics is offered to a limited number of students.
There is also the possibility to prepare the graduation thesis in Medical Genetics for 1/2 students /year.