Enrollment year
2021/2022
Academic discipline
BIO/13 (APPLIED BIOLOGY)
Department
DEPARTMENT OF PUBLIC HEALTH, NEUROSCIENCE, EXPERIMENTAL AND FORENSIC MEDICINE
Course
OCCUPATIONAL THERAPY
Curriculum
PERCORSO COMUNE
Period
1st semester (04/10/2021 - 21/01/2022)
Lesson hours
16 lesson hours
Activity type
WRITTEN TEST
Learning outcomes
The course of Applied Biology aims to provide basic knowledge of Human Biology and updated knowledge on the most recent discoveries and its applications in clinical practice.
Course contents
Program
The eukaryotic cell: chemical constitution, differential expression, apoptosis.
The Human Genome project. Interindividual genetic variability.
The plasmatic membrane. Passive and active transport. Examples of canalopathies: Long QT syndrome, familial hemiplegic migraine and cystic fibrosis
The cell cycle. Mitosis and Meiosis. Meiotic non- disjunction
Mutations: gene, genomic and chromosomal mutations and related examples
Chromosomal abnormalities. Indications for chromosome/genetic analysis
Examples of numerical and structural chromosomal anomalies. Microdeletion syndromes.
Molecular cytogenetic techniques. Fluorescent in situ hybridization, array-based comparative genomic hybridization and Next Generation Sequencing. Mutation analysis techniques.
Mendelian inheritance: dominant and recessive autosomal diseases. Interpretation of genealogical trees. Acondroplasic dwarfism, imperfect osteogenesis, neurofibromatosis. Gaucher disease and cystic fibrosis as examples of autosomal recessive diseases. X-linked recessive diseases: example of hemophilia and Duchenne muscular dystrophy
Non-mendelian heredity: germline mosaicism, uniparental disomy, mitochondrial diseases, dynamic mutations. Examples of genomic imprinting disorders: Prader-Willi syndrome, Angelman syndrome
Cancer: Oncogenes and Oncosuppressors
Li-Fraumeni syndrome and Ataxia-Telangectasia.
Teaching methods
Frontal lessons
Reccomended or required readings
Biologia e Genetica
Campbell and Reece
Pearson
o
Biologia Cellulare/ Genetica e biologia molecolare
Autore: raven - johnson - mason - losos - singer
PICCIN
pdf and notes from lessons
Assessment methods
Written test/ Oral test
Sustainable development goals - Agenda 2030
Università di Pavia - Offerta formativa