2020/2021

2022/2023

DM270

BIO/18 (GENETICS)

DEPARTMENT OF MOLECULAR MEDICINE

MEDICINE AND SURGERY (IN ENGLISH LANGUAGE) (ENGLISH LANGUAGE)

PERCORSO COMUNE

3°

1st semester (03/10/2022 - 13/01/2023)

2

16 lesson hours

ORAL TEST

ACHILLI ALESSANDRO (titolare) - 2 ECTS

Basic Knowledge of genetics

The course aims to broaden the knowledge of genetics by acquiring knowledge of the Genetic Principles of Evolutionary Medicine. Evolutionary medicine, sometimes referred to as Darwinian medicine, combines the disciplines of evolutionary biology and anthropology with medicine to create new paradigms for investigating and understanding disease. In evolutionary medicine, principles and theories, such as phylogeny, genetic drift, natural selection, heritability, and fitness, among others, are utilized to advance the understanding of human health, development, and disease. Medicine is based on biology, and biology is based on evolution. The enterprise here is to understand how to use the basic science of evolutionary and population genetics in the services of medicine and public health.Evolution, selection and modern humans: examples of recent human adaptation. Evolution of species and evolution of cancer. Darwinian selection and its interpretation: eugenics in the early years of ‘900 and manipulated genetics in Russia: the Lysenko case. Adaptation, selection and pesticide or antibiotic resistance.The course will include also a practical training where the students will be involved in a molecular and phylogenetic screening of their DNA.

Introduction to Evolutionary Medicine.Population genetics principles and applications: the evolutionary processes shaping the distribution of genetic variation.Choosing the right Molecular Genetic Markers (MGMs) for studying molecular evolution.Molecular phylogenetics and evolution. The reconstruction of DNA-based phylogenetic trees. The molecular clock: how to convert molecular divergences into time estimates. Molecular phylogenetics as a tool to study the origin and evolution of modern humans. Molecular phylogenetics as a tool to identify pathogenic mutations in the mitochondrial genome (SNP calling and cybrids).Association studies between mitochondrial haplogroups and diseases (e.g. LHON, Diabetes). Concepts of linkage and linkage disequilibrium. Examples of founder mutations and their dating. Variability of the genome and de novo mutations in relation to disease. Evolutionary genetics explains “why we are what we are”. The evolution of our body in the last few million years and implications in medicine. How the environmental changes in Africa affected our body. Consequences of these changes. The sequencing of the human genome was a major achievement in biology in the last years. Eugenics Variability in the human species. 1000 Genome project. As normal as normal can be? Variability and forensic medicine.Copy number variations / segmental duplications as the main force of genome evolution. Examples of recent human adaptation. Adaptation, selection and pesticide or antibiotic resistance. Evolution of the karyotype. Centromere repositioning phenomenon in evolution and in clinical cases.Domestication and the concept of “Nature”. Evolution, sexual reproduction, and aging.Species evolution and cancer evolution. CRISPR-Cas9 and guided evolution.Practical training (bench-work): Biological sampling, DNA extraction and mtDNA screening (control-region sequencing).Practical training (bioinformatics): sequence analysis and phylogenetic classification tools.

Face to face lessons and practical training.

Presentation slides that will be distributed along with papers and documentation that will be used during the course.

Oral presentation.

The course has a dedicated web site on the e-learning portal of the University of Pavia https://elearning.unipv.it/, which students can access using their login credentials.
For further information:
alessandro.achilli@unipv.it

Some of the topics in this course fit with the Goal 3 (Good health & well-being) of the 2030 Agenda for Sustainable Development.

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