- Docente: Manuela Ferracin
- Credits: 5
- Language: Italian
- Teaching Mode: Traditional lectures
- Campus: Bologna
- Corso: Single cycle degree programme (LMCU) in Medicine and Surgery (cod. 8415)
Learning outcomes
This course is designed to provide you with an understanding of how genomic alterations cause diseases. In particular, the focus will be on molecular oncology (origin and natural history of tumors within the framework of cancer prevention and innovative preclinical approaches to the control of cancer) and molecular pathology (genetic alterations of common human diseases and molecular mechanisms of pathology).
Course contents
The course of Molecular Pathology is comprised of a "Genetic Pathology" part (2 credits) with the following program, and an Oncology part (3 credits) taught by Prof. Brigotti.
Genetic pathology course content:
Human genetic variations: human genome and 1000 genomes projects.
Monogenic diseases.
Mutations and their effect.
Autosomal dominant disorders: Familial hypercholesterolemia, Polycystic kidney disease, Huntington’s disease.
Autosomal recessive diseases: Sickle cell anaemia, Cystic fibrosis.
X-linked disorders: Duchenne muscular dystrophy.
Single-gene disorders with nonclassic inheritance (trinucleotide-repeat mutations, mitochondrial diseases, genomic imprinting, fragile X)
Familial cancers: retinoblastoma, familial adenomatous polyposis, von Hippel Lindau syndrome, xeroderma pigmentosum, ataxia telangiectasia, hereditary breast cancer, Li-Fraumeni syndrome, Lynch syndrome, Cowden syndrome, MEN type 1 and 2.
Genetic diseases resulting from a chromosomal abnormality (Del 22q11.2 syndrome, Cri-du-chat syndrome, trisomies).
Role of noncoding RNA in pathology: microRNA and long noncoding RNA.
Techniques to study genetic alterations (microarray, deep sequencing, genome editing).
Readings/Bibliography
Robbins & Cotran Pathologic Basis of Disease 9th edition
Teaching methods
16-hours course organized in 2-hours lessons. Slides available on line (AMS Campus).
Assessment methods
Oral examination at the end of the course. The dates of the exams will be published on AlmaEsami.
Teaching tools
The most appropriate textbook for this course is the Robbins-Cotran, The pathological basis of disease, 9th edition, Elsevier. However, course attendance is strongly recommended.
Office hours
See the website of Manuela Ferracin