Enrollment year
2019/2020
Academic discipline
MED/03 (MEDICAL GENETICS)
Department
DEPARTMENT OF CLINICAL-SURGICAL, DIAGNOSTIC AND PEDIATRIC SCIENCES
Curriculum
PERCORSO COMUNE
Period
1st semester (01/10/2019 - 24/01/2020)
Lesson hours
16 lesson hours
Activity type
WRITTEN TEST
Learning outcomes
The Medical Genetics course aims to provide basic knowledge of Human Biology and Medical Genetics and updated knowledge on the latest genetic discoveries and its applications in clinical practice.
Course contents
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
DNA duplication
Transcription and translation
Regulation of transcription in eukaryotic cells
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
Nonmendelian 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
Neil A. Campbell - Jane B. Reece
Pearson
or
Biologia Cellulare/ Genetica e biologia molecolare
Autore: raven - johnson - mason - losos - singer
Editore: PICCIN
pdf and notes from lessons
Assessment methods
Oral test
Sustainable development goals - Agenda 2030
Università di Pavia - Offerta formativa