BIOMARCATORI LEGATI ALLA NUTRIZIONE
Module GENETICA MEDICA

Academic Year 2022/2023 - Teacher: CORRADO ROMANO

Expected Learning Outcomes

Understanding of the interaction between genetics, genomics, epigenetics and human nutrition

Course Structure

Front lessons

If the teaching should be shifted to the mixed or remote mode, the needed amendments will be performed, in order to respect the program provided in the Syllabus

Required Prerequisites

Shared prerequisites with those needed for the registration at the Course.

Attendance of Lessons

Warmly suggested

Detailed Course Content

  • Medical Genetics and Human Nutrition
  • Nutrigenetics, Nutrition and Nutrigenomics
  • Human genome and epigenetic transcriptional regulation
  • Metilation, Histones Acetylation and Deacetylation, X chromosome Inactivation, Enhancers and Silencers
  • The structure of proteins and the role of the amminoacids
  • Genetic variations and their effect
  • SNPs and CNVs
  • Gene, Transcription and Translation
  • Alleles and Zygosity
  • Homozygous, Heterozygous, and Hemizygous
  • Mendelian (Autosomal recessive or dominant, X-linked recessive o dominant) and non mendelian (Mitochondrial, Dynamic mutations, Imprinting) modes of inheritance
  • Penetrance
  • Expressivity
  • HLA DQ2, DQ8, DR4 and Lactase gene and milk sensitivity
  • MTHFR, Homocystein, Folates and B Vitamins 
  • VDR and D Vitamin
  • PPARGamma2, FTO and ACE genes polymorphisms
  • Microbiota
  • Correlation between impaired gut microbiota and Obesity, Allergies, Chronic inflammatory diseases and Diabetes
  • Vaginal and cesarean deliveries
  • Cesarean delivery, Atopic diseases and Obesity
  • Breast feeding
  • Prebiotics and Probiotics
  • Stools transplant
  • Nutrition during pregnancy, Epigenetics and Fetal programming
  • Maternal malnutrition and effects on the progeny
  • Dutch famine (1944/1945)
  • Obesity and Pregnancy
  • Paternal malnutrition and effects on the pregnancy
  • Hyperglicemia during pregnancy and effects on the progeny 
  • Stress during pregnancy and effects on the progeny 
  • The lesson of sardinian centenaries
  • Genes, nutrition and mood
  • AKeA project

Textbook Information

  • https://www.ncbi.nlm.nih.gov/books/NBK218767/
  • https://doi.org/10.1016/j.jand.2013.12.001
  • Slides provided by the Teacher

Course Planning

 SubjectsText References
1Human genome, Amminoacids, and DNA variantsSee Hyperlinks in the  suggested reading section
2Nutrigenetics and NutrigenomicsSee Hyperlinks in the suggested reading section
3HLA DQ2, DQ8, DR4 and gluten sensitivitySee Hyperlinks in the suggested reading section
4Lactase gene and milk sensitivitySee Hyperlinks in the suggested reading section
5MicrobiotaSee Hyperlinks in the suggested reading section
6Nutrition during pregnancy and epigenetic implicationsSee Hyperlinks in the suggested reading section
7MTHFR, Homocysteine, Folates and B VitaminsSee Hyperlinks in the suggested reading section
8VDR and D VitaminSee Hyperlinks in the suggested reading section
9PPARGamma2, FTO and ACE genes polymorphismsSee Hyperlinks in the suggested reading section

Learning Assessment

Learning Assessment Procedures

Oral test/examination

The test  will be a conversation where two-four questions will be asked by the teacher on at least two topics of the program. The test will acknowledge: i) the rate of knowledge of medical genetics; ii) the ability of problem solving within the field of Medical Genetics; iii) the clarity of speech; iv) the appropriate scientific medical wording.

The final marks will be given according to the following criteria:

29-30 cum laude: the student has a thorough knowledge of medical genetics, can quickly and correctly understand and critically analyze the provided scenarios, solving on his/her own complex issues; has brilliant communication skills, and masters scientific medical wording.

26-28: the student has a good knowledge of medical genetics, can understand and critically and straighforwardly analyze the provided scenarios, solving almost on his/her own complex issues, and shows clearly the topics with an appropriate scientific medical wording.

22-25: the student has a discrete knowledge of medical genetics, but restricted to the main topics; can critically, but not ever straightforwardly, understand and analyze the provided scenarios, and  shows somewhat clearly the topics with a discrete scientific medical wording.

18-21: the student has the minimal knowledge of medical genetics, has a modest ability of critically  understanding and analyzing the provided scenarios, and shows with a sufficient clarity the topics, but a poorly developed scientific medical wording.

Failed test/examination: the student does not show the minimal knowledge of the main topics of the Course. The ability of using the scientific medical wording is very poor or absent, and cannot apply on his/her own the acquired knowledge. 

Examples of frequently asked questions and / or exercises

  1. Nutrigenetics
  2. Nutrigenomics
  3. Autosomal Dominant Inheritance
  4. Autosomal Recessive Inheritance
  5. X-Linked Inheritance
  6. Mitochondrial Inheritance
  7. Dynamic Mutations
  8. Imprinting
  9. Penetrance
  10. Expressivity
  11. Mutations and Genetic Variants
  12. Alleles and Zygosity
  13. Microbiota
  14. HLA DQ2, DQ8, DR4 and gluten sensitivity
  15. Lactase gene and Milk sensitivity
  16. MTHFR, Homocysteine, Folates and Vitamin B
  17. VDR and Vitamin D
  18. PPARGamma2, FTO and ACE genes polymorphisms
  19. Nutrition during pregnancy, Epigenetics and fetal programming

VERSIONE IN ITALIANO