NUTRIGENETICS AND NUTRIGENOMICS
NUTRIGENETICA E NUTRIGENOMICA
|Lecturer||Office hours for students|
|Teaching in foreign languages|
Course partially taught in a foreign language
This course is taught partially in Italian and partially in a foreign language. Study materials can be provided in the foreign language and the final exam can be taken in the foreign language.
Assigned to the Degree Course
|Date||Time||Classroom / Location|
|Date||Time||Classroom / Location|
-> First part
1. The human genome, genes, and chromosomes
Chromatin, heterochromatin, dose compensation, chromosomes in mitosis and meiosis. Genes structure and the human genome.
2. Gametogenesis and zygote
Zygote generation, chromosomal determination of sex
Human karyotype, mitotic chromosomes, banding techniques, meiotic chromosomes
4. Chromosomal disorders
Mutations, number and structure abnormalities, sex chromosomes, X chromosome inactivation, X female abnormalities, sex chromosome abnormalities in males
5. Study of family trees
Monogenic disorders, autosomal dominant inheritance, recessive and sex-related
6. Exceptions to Mendelian inheritance
6.1 Issues related to the interpretation of family trees.
6.2 Variable expressivity and incomplete penetrance (Ex: Holoprosencephaly).
6.3 Genetic heterogeneity (Ex: deafness).
6.4 Late-onset diseases and anticipation (Ex: Huntington's disease).
6.5 Unbalanced X chromosome inactivation and X / autosomal translocations.
6.6 Germinal and somatic mosaicism.
6.7 Mitochondrial inheritance (examples of mitochondrial diseases).
7. Molecular epidemiology and susceptibility to multifactorial diseases
Polygenic diseases: Quantitative and semi-quantitative characters. Evaluation of the genetic component in complex genetic diseases. Strategies for the identification of susceptibility genes.
8. Developmental genetics
Mono-dizygotic twins, control of sexual development, genetic defects of embryonic development: Homeobox and Hedgehog genes, Defects in limb development.
9. Disorders of sexual development
Determination of gonadal sex and differentiation of phenotypic sex
10. Genetic testing and genetic counseling
Genetic counseling and diagnostic tests with different utilities and applications: prenatal, postnatal, screening, presymptomatic and susceptibility. The genetic report, diagnostic pathways
11. Prenatal diagnosis
Chorionic villus sampling. Amniocentesis. Cordocentesis. Cytogenetic analysis, Molecular analysis. Preimplantation, genetic diagnosis. Future developments: non-invasive prenatal diagnosis
12. Diagnostic techniques
PCR, Real-Time PCR, Sequencing
-> Second part
13. Genetically determined Human diseases.
13.1 Biological and genetic bases of diseases.
13.2 Placement within diagnostic pathways.
13.3 Gene therapy.
13.4 Practical and interpretative exercises, risk calculation, drafting of a genetic report.
14. Introduction to genomics and post-genomics.
14.1 IT services and tools in genetic diseases.
14.2 Database of pathologies and variants.
14.3 Interpretation of variants based on computer databases and scientific literature.
14.4 Identification of disease genes: Functional cloning and positional cloning, the candidate-by-position gene approach.
14.5 The Human Genome Project and the use of the human genome sequence for the identification of disease genes.
14.6 . Next generation sequencing and its clinical applications. International databases
15. Chromosomal syndromes and genomic disorders
Main chromosomal aberration syndromes: Trisomy 13, trisomy 18, trisomy 21. Cry-du-chat syndrome. Wolf syndrome. Turner and Klinefelter syndrome. CGH arrays and cryptic chromosomal rearrangements. Diagnostic approach to intellectual disability. Abnormalities of sex chromosomes
17. Diseases caused by genomic imprinting
Angelman syndrome. Prader-Willi syndrome. Genomic imprinting and medically assisted procreation
18. The most common genetic disorders
Cystic fibrosis and pathologies related to the CFTR gene, Thalassemia and Hemoglobinopathies, Hemochromatosis,
19. Diseases caused by dynamic mutations
Fragile X chromosome syndrome. Myotonic dystrophy. Huntington's disease. Kennedy's disease. Friedreich's ataxia. Autosomal dominant spinocerebellar ataxia.
20. Neurological and neurodegenerative disorders and complex phenotypes
Movement disorders: Spastic paraplegies, Parkinsonisms, Ataxias, Dystonia. Genetically-determined dementias: Alzheimer's, frontotemporal dementias. Neuromuscular diseases: Spinal muscular atrophy, Amyotrophic lateral sclerosis (ALS), Muscular dystrophy, Hereditary peripheral neuropathies
21. Cardiological diseases
Hereditary primary cardiomyopathies. Hypertrophic cardiomyopathy. Left ventricular non-compaction. Dilated cardiomyopathy. Arrhythmogenic cardiopathies
22. Eye diseases
Retinitis Pigmentosa, Usher Syndrome, Stargar's Disease, Retinal Macular Degeneration
23. Rare diseases
Orphan drugs and the complexity of the genetic component. Applications of the clinical exome.
24. Functional assays
Bioinformatics, Minigene assay, Generation IPS cells
25. Gene therapy
25.1 Methods and clinical trials concerning the pathologies addressed. Outline of Gene Transfer, Targeting of transgenes, RNA interference, CRISPR and gene editing.
25.2 Main applications of gene therapy in hereditary diseases (Cystic fibrosis; Hereditary coagulopathies). Specific aspects of tumor gene therapy
26. Cancer Genetics
Hereditary tumor syndromes, somatic mutations, oncogenes and tumor suppressors
27. Forensic Genetics
The study of inter-individual variability, Molecular typing, Interpretation of profiles, biostatistic calculation
Involvement of the microbiome in the pathophysiology of human disease
-> Third part
29. Has the time come for genotype-based nutrition decisions?
Nutrigenetics or nutrigenomics?
30. Genetic nutrition in practice:
Genetic syndromes that tend to respond well to nutrition interventions, genetic variants that increase health risks unless dietary intake is adjusted, how down syndrome affects nutritional needs
31. Where nutrigenetic differences come from
When our ancestors could still make their own vitamins, recent evolution of genetic differences, mechanisms of evolutionary adaptation, genetic variants linked to lactase persistence in populations around the world
32. The genetics of taste and smell
Genes and ligands related to bitter taste
33. Gender differences
Polymorphisms in estrogen-responsive genes, male-specific polymorphisms
34. How nutrients are affected by genetics
34.1 Inborn errors of metabolism versus common genetic variants
34.2 Newborn metabolic testing, urea cycle defects, phenylketonuria, pku treatment, cystinuria, cystinuria treatment, hartnup disease, maple syrup urine disease, fat intake and utilization, sterols, phytosterolemia, cholesterol hyperresponders, carbohydrates, carbohydrate digestion, alcohols
34.3 Major ethanol-metabolizing alcohol dehydrogenases, minerals, vitamins
35. How does nutrigenetics influence long-term health?
Preconceptual and prenatal nutrition, nutrigenetics of birth defect risks, prenatal nutrition, boosting cognitive development of infants
36. Cancer, nutrition, and genetic predisposition
Nutrition-related risk of developing type 2 diabetes mellitus, lipoprotein response to lipid intake, thromboembolism, the obesity epidemic, appetite regulation, fatty liver disease
37. Tools for nutrigenetic research and practice
In vitro and animal models, genetic manipulation of cultured cells, animal cross breeding, nutrigenetic studies in humans, genotype versus allele frequency, twin studies, family studies, association studies, case-control studies, prospective cohort studies, mendelian randomization, nutritional pharmacogenetics
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: 20/07/2021|