Enrollment year
2019/2020
Academic discipline
BIO/13 (APPLIED BIOLOGY)
Department
DEPARTMENT OF CLINICAL-SURGICAL, DIAGNOSTIC AND PEDIATRIC SCIENCES
Course
SCHOOL OF DENTAL MEDICINE
Curriculum
PERCORSO COMUNE
Period
2nd semester (02/03/2020 - 05/06/2020)
Lesson hours
56 lesson hours
Course contents
Cell theory. The eukaryotic cell. Main chemical constituents of the cell. Apoptosis.
The Human Genome Project: objectives, results, benefits. Interindividual gene variability: SNPs and CNVs. What changed in the last decade: post-genomic era.
The plasmatic membrane, examples of canalopathies and cystic fibrosis
The cell cycle. Mitosis, meiosis.
DNA duplication and trascription. Regulation of transcription in eukaryotes. Examples of aberrant splicing disorders; antisense oligonucleotides in some cases of Duchenne muscular dystrophy. Translation: examples of pathologies from protein misfolding.
Cytogenetics: history of cytogenetics, structure of chromosomes, numerical and structural chromosomal anomalies.
Epidemiology of chromosomal abnormalities. Down syndrome, Patau syndrome, Edwards syndrome
Numerical abnormalities of sex chromosomes. X-chromosome inactivation and preferential inactivation in specific structural rearrangements of the X chromosome
Structural chromosomal abnormalities: translocations
Structural chromosomal abnormalities: deletions and duplications. Microdelection syndromes
Prader-Willi syndrome and Angelman syndrome as examples of genomic imprinting disorders. Uniparental disomy. Wiedemann-Beckwith syndrome and Silver-Russel syndrome-
Indications for chromosome/genetic analysis in the neonatal period, during childhood, puberty and reproductive age. Genital ambiguity and disorders of sexual development. Male and female infertility
Molecular cytogenetic techniques. Fluorescent in situ hybridization (FISH). Array-CGH, PCR. Copy Number Variations (CNVs) and their clinical significance.
From molecular karyotype to next generation sequencing
Mendelian heredity: Autosomal dominant and recessive diseases and X-linked diseases
Non-Mendelian inheritance
Mutations
Mutation analysis techniques
Transgenic mice
Evolution of the stomatognatic apparatus in primates and in humans; the genetics of tooth development; dental stem cells; isolated oligodontia and syndromic oligodontia which genes?
Cancer: Oncogenes and Oncosuppressors
Stem cells
Databases: practical examples using the most frequently used databases
Gene therapy
Teaching methods
Frontal lessons
Reccomended or required readings
Biologia cellulare e molecolare
Gerald Karp
Edises
or
Genetica e Genomica nelle scienze mediche
Strachan, Goodship, Chinnery
Zanichelli
Assessment methods
Oral exam with ppt presentation by a single student or a small group.
Sustainable development goals - Agenda 2030
Università di Pavia - Offerta formativa