- Docente: Daniele Zama
- Credits: 3
- SSD: MED/38
- Language: Italian
- Teaching Mode: In-person learning (entirely or partially)
- Campus: Bologna
- Corso: Single cycle degree programme (LMCU) in Pharmacy (cod. 5985)
Learning outcomes
At the end of the course, the student: - has basic knowledge of the major rare diseases; - understands clinical reasoning to define a diagnostic hypothesis; - knows the major therapeutic interventions
Course contents
Rare Diseases: definition and peculiarities, current regulations, networks and sites of interest (2)
Rare Diseases: diagnostic methods, genetic confirmation, newborn screening (2)
Hereditary metabolic diseases (2)
Diseases of the immune system (2)
Diseases of the blood and hematopoietic organs (2)
Congenital malformations and syndromes of chromosomal and genomic rearrangements (2)
Rare tumors (1)
Diseases of the visual apparatus (1)
Diseases of the central and peripheral nervous system (1)
Diseases of the osteo-muscular and connective tissue system (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 Examination
Teaching tools
Projector
Office hours
See the website of Daniele Zama
SDGs
This teaching activity contributes to the achievement of the Sustainable Development Goals of the UN 2030 Agenda.