97688 - Rare Diseases

Learning outcomes

At the end of the course, the student: - has basic knowledge of the main rare diseases; - understands clinical reasoning to define a diagnostic hypothesis - knows the main therapeutic interventions

Course contents

Topic (hours)

Rare Diseases: definition and peculiarities, current regulations, networks and sites of interest (2)

Rare Diseases: diagnostic methods, genetic confirmation, neonatal screening (2)

Hereditary metabolic diseases (2)

Diseases of the immune system (2)

Diseases of the blood and haematopoietic organs (2)

Congenital malformations and chromosome and genome rearrangement syndromes (2)

Rare tumours (1)

Diseases of the visual apparatus (1)

Diseases of the central and peripheral nervous system (1)

Diseases of the musculoskeletal system and connective tissue (1)

Diseases of the circulatory system (1)

Diseases of the skin and subcutaneous tissue (1)

Diseases of the genito-urinary system (1)

Diseases of the endocrine glands (1)

Diseases of the digestive system (1)

Diseases of the respiratory system (1)

Rare diseases: other morbid conditions (2)

Readings/Bibliography

- www.malattierare.gov.it

- health.ec.europa.eu/european-reference-networks/rare-diseases_en

- health.ec.europa.eu/publications/european-reference-networks-2023-presentation-booklet_en

Teaching methods

Frontal teaching with presentation of clinical cases

Assessment methods

Oral exam

Teaching tools

Video projector

Office hours

See the website of Andrea Pession