Università degli Studi di Urbino Carlo Bo / Portale Web di Ateneo


MEDICAL GENETICS AND PHARMACOGENOMICS
GENETICA MEDICA E FARMACOGENOMICA

A.Y. Credits
2015/2016 8
Lecturer Email Office hours for students
Emiliano Giardina

Assigned to the Degree Course

Date Time Classroom / Location

Program

Program
1. Chromosomes
1.1 Chromatin
1.2 Heterochromatin
1.3 Heterochromatin facoltative and dosage compensation
1.4 Chromosomes during the mitosis
1.5 Chromosomes during the meiosis
2. Gametogenesis and fertilization
2.1 Genes and chromosomes
2.2 Chromosomal sex determination
2.3 Specific mechanism for chromosomal sex determination
3. Cytogenetic
3.1 The normal human karyotype
3.2 Delineation of human karyotype
3.3 Morphology of chromosomes mitotic
3.4 Preparation of chromosomal samples
3.5 Chromosomes banding techniques
3.6 Meiotic chromosomes
4. Chromosomal disorder
4.1 Chromosomal mutations
4.2 Abnormalities of chromosome number and their origins
4.3 Abnormalities of chromosome structure
4.4 Sex chromosome disorders
4.5 X-chromosome inactivation
4.6 X -chromosome linked diseases in females
4.7 Sex chromosome linked diseases in males
5. Study of genealogical trees
5.1 Monogenic disorders
5.2 Autosomal inheritance
5.3 Dominant autosomal characters
5.4 Dominant autosomal recessive
5.5 Sex-linked inheritance
5.6 Dynamic mutation
5.7Genetic basis of variability in drug responses
6. Molecular diagnostics
6.1 Prenatal diagnosis: invasive and non invasive
6.2 Postnatal diagnosis
7. Molecular epidemiology
7.1 Polygenes mapping and oligogenes mapping
7.2 Genetic susceptibility of human diseases
7.3 Developmental genetics and complex phenotypes related: mono-dizygotic twins and joined twins, chimeras, parthenogenesis;
7.4 Genetic control of sexual development
7.5 Sexual differentiation
7.6 Genetic disorders of sex differentiation
8. Genetic testing
8.1 Unknown mutations detection tests
8.2 Scanning of the genome for unknown mutations detection
8.3 Genetics screening
8.4 Hereditary diseases prevention
8.5 Genetic counseling
9. Gene therapy
9.1 Experimental models
9.2 Approaches and protocols
9.3 Cancer genetic
9.4 Background and basic principles
10. Forensic genetics
10.1 Inter-individual variability study
10.2 Extraction methods from tracks/microtracks
10.3 Molecular typing in forensic setting
10.4 Profiles interpretation and background on biostatistician calculus

Teaching Material

The teaching material prepared by the lecturer in addition to recommended textbooks (such as for instance slides, lecture notes, exercises, bibliography) and communications from the lecturer specific to the course can be found inside the Moodle platform › blended.uniurb.it

« back Last update: 09/09/2015

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