Università degli studi dell'Insubria

ADVANCED AND QUANTITATIVE GENETICS - Mod. Human Genetics and Genomics

A.A. di erogazione 2017/2018
Insegnamento obbligatorio

 (A.A. 2017/2018)
Anno di corso: 
1
Tipologia di insegnamento: 
Caratterizzante
Settore disciplinare: 
GENETICA (BIO/18)
Crediti: 
8
Ciclo: 
Secondo Semestre
Ore di attivita' frontale: 
72
Dettaglio ore: 
Lezione (48 ore), Esercitazione (24 ore)

The purpose of the integrated course in Advanced and Quantitative Genetics – Module of Human Genetics and Genomics- is to provide the students with a detailed knowledge in the most recent topics in Human Genetics and Genomics. Modern approaches within these fields will be described and discussed in this course, with a special attention on both the relevant potentials and pitfalls in these areas. The goal of the Human Genetics module is to gather critical knowledge regarding the bases of complex biological systems and processes. We will address such issues with a rather integrated and multidimensional approach taking advantage of the basic concepts of the physics of “phase transitions”. The module of Genomics will provide a comprehensive picture of the recent field of genomic science, with a particular focus on the human genome. The issues of the course were selected focusing on the conceptual and methodological genetic approaches and emphasis is given toward the limitation of such approaches.
The expected learning outcomes for this course will be the following:

-A detailed knowledge of the principles of genomic sciences (concerning both the experimental approaches and main achievements in the field of genomics) and of the bases of complex biological systems and processes.
- The ability to interpret complex phenomena with the conceptual tools of the system dynamics theory
-The ability to carry out bibliography searches and to synthesize the retrieved informations in oral and/or visual representation
- The ability to achieve an informed judgment, adequate expertise and communication skills in relation to both the experimental approaches and main scientific achievements for both modules
- The ability to develop a critic awareness and ability to analyze and discuss issues related to the course contents and the comprehension skills required to develop and maintain issues related to the acquired knowledge, by means of critical reasoning and problem-solving attitudes.

A good background in genetics, molecular biology, physiology, biochemistry as well as basic notions of cellular biology are mandatory.

MODULE OF HUMAN GENETICS (4 CFUs, 32 hours)
1. Concept of genetic heterogeneity: locus, allelic heterogeneity. Phenotypic heterogeneity. Amyloidoses as a pertinent exemplar.
2. Genotype-phenotype relationship from one to one to many to many. Introduction to biological networks and conceptual differences between pathway and network. Functional characteristics of networks(redundancy degeneration connectivity). Genotypic and phenotypic space according to Lewontin. Role of environment and stochasticity in general biological processes. Conceptual bases of gene-environment interactions.
3. Plasticity of the genome as evidentiated by the Encode project. Re-definition of gene according to the Encode project. Definition and role of the “cellular context” in shaping the function of coding and non-coding sequences.
4. Study of the scale free networks: topology and wiring. Special attention to GRNs and their role in differentiation processes. Incomplete penetrance explained with the network buffering capacity.
5. Introduction to the basic concepts of the systems dynamics theory. Cellular attractors as tools for developmental biology. Interpretation of the Waddington’s epigenetic landscape.

MODULE OF GENOMICS (4 CFUs, 32 hours)
1.From Genetics to Genomics: introduction to the theoretical issues and the main technological achievements leading to the birth of genomic science (2 hours)
2. Genome project, part 1: Rationale, aims and planning. Polymorphic genetic markers and genetic maps. Assembly of the first genomic maps for the human and animal models genomes. Theoretical basis of linkage analysis in humans. Calculation of LOD scores and recombination fraction in the human genome. Autozygosity mapping approaches (6 hours)
3. Genome project, part 2: Introduction to the physical maps of a genome. Somatic cell and radiation hybrids. Physical maps based on FISH assays. Genomic libraries and assembly of recombinant clone contigs by fingerprinting or STS-content mapping. Transcription maps of the genome. The EST project (5 hours)
4. Genome project, part 3: Theoretical issues concerning genome sequencing. Human genome sequencing: the “clone-by-clone” e “whole genome shotgun” approaches. The public and private human genome projects. Validation and implementation of the human genome sequence assembly (4 hours)
5. The post-genomic era: Genome annotation approaches. The informational content of the human genome. Gene number and biological complexity: toward a new definition of “gene”. The GeneOntology and EnCODE projects (5 hours)
6. Functional Genomics: Forward and reverse genomics approaches in the most used model organisms (3 hours)
7. Genomic approaches for the genetic dissection of complex diseases: Linkage disequilibrium mapping. The advent of SNP markers and the HapMAp project. Genome-wide association studies (GWAS) (5 hours)
8. Introduction to personal genomics. Approaches for next generation sequencing. The 1000 genome project. .Mapping human disease genes by exome sequencing (2 hours)

MODULE OF HUMAN GENETICS: Slides will be provided by the lecturer together with other suitable material (from the web or from other sources).

MODULE OF GENOMICS:The teaching material is updated regularly and will be provided to all students in the e-learning online platform as Powerpoint slides file, short notes, animation files and articles from scientific literature on selected issues.

Standard class lessons will be held with the aid of slide presentation sessions, coupled to projection of didactic movies when required. Active attendance is strongly recommended.

At the end of the module, students will undergo an oral examination. During the exam, the acquired knowledge will be evaluated by raising at least three question focussed on different issues. For each student, the final judgement will consider the quality and precision of the answers (70%), the ability to motivate statements (20%) and the communication skills (10%). The scheduled time for each exam will be about 20-25 minutes and the exam will be considered passed equal or over the 18/30 mark.

Recommended textbook:
1. T Strachan & A. Read – “Human Molecular Genetics” (Garland Science Publ.)
2. T Strachan, J Goodship & P Chinnery – “Genetics and Genomics in Medicine” (Garland Science Publ.)

The lecturers will be pleased to receive students at the DBSV, piano giallo (2°), Via Dunant 3, Varese in order to answer questions regarding the topics discussed in the course following an arrangement, either by phone or e-mail. Students are kindly required not to ask bureaucratic/administrative question, if not really urgent.
E-mail addresses: francesco.acquati@uninsubria.it; roberto.taramelli@uninsubria.it

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