The course aims to provide practical tools for managing genetic tests. The lessons will deepen the following topics :

-clinical characteristics of genetic diseases, with attention to Mendelian genetic (both monogenic and polygenic)

- apply online tools to better understand the clinical and genetic characteristics of Mendelian diseases

- Identify the best molecular genetic test related to specific clinical conditions; combine different diagnostic approaches for complex genetic diagnosis

- Process and interpret laboratory data

- Use public databases of genomic sequences, frequencies, and nucleotide variants 

- Elaborate a diagnostic report including genomic results, data interpretation, and recommendations based on the result obtained

1. Introduction to Medical Genetics and genetic testing

2. Basic concepts of genetic testing, 

•     structure and design of a diagnostic report, various types of reports
•      Guidelines, CEIVD marking, Consensus

3. Outlines of bioinformatics

• database, reference genomes, pathogenicity of variants
• from  disease to the gene, from the gene to the nucleotide and vice versa

4. Laboratory protocols in monogenic diseases: Expansion diseases, Cystic fibrosis, Celiac disease,Coagulation factors, hemochromatosis

5. Sequencing

• Singer sequencing, theory and applications
• NGS sequencing theory
• drawing of an NGS panel
• NGS bioinformatics pipeline
• NGS in complex phenotypes
• NGS for hereditary tumors: example BRCA genes
• Sanger in support of NGS

6. Analysis of the deletions

• MLPA 1
• ArrayCGH, SNP array

7. Mitochondrial DNA

8. Pharmacogenetic test

• example of germline-related pharmacogenetics
• cancer-related pharmacogenetic example

9. Diagnostic flowchart, complex diagnostic approaches

D1 - Knowledge and ability to understand. The student will show mastery in basic knowledge of molecular genetics, cytogenetics, familial pedigrees, patterns of disease transmission, pharmacogenomics and personalized medicine.

D2 - Ability to apply knowledge and understanding. The student will demonstrate understanding of concepts and theories provided by the course; students will provide examples of genetic diseases (biological, clinical, hereditary, and analytical skills); they will be able to analyze familial pedigrees, identifying patterns of transmission, recurrence risks, available tests.

D3 - Autonomy of judgment.The student will show the ability to use knowledge and concepts that allow to apply logic of the discipline. In particular, students have to be able to identify appropriate personalized medicine strategies in order to administer pharmacogenetic tests; they will simulate the design of diagnostic pathways; they will be able to propose possible solutions to problematic cases.

D4 - Communication skills. The student will show the ability to communicate the knowledge acquired to their colleagues and superiors using appropriate terminology.

D5 - Learning skills. The student will show possession of the learning ability useful for the continuous updating of knowledge in this discipline.

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

The teaching material prepared by the lecturer can be found at https://sites.google.com/uniurb.it/stefanogambardella/home?authuser=0

Teaching

The course has a practical approach, each lesson has a small introductory part followed by the practical part in which the student will have to carry out practical exercises based on material provided by the teacher. For this purpose, it is suggested the help of a laptop during the lessons

Course books

The teacher entirely provides the material. There are no suggested books as the exam aims to provide practical independence.

Assessment

The final assessment of learning includes a practical test in which exercises will be carried out on the PC with the production of diagnostic reports, data analysis, genomic sequences

Disabilità e DSA

Le studentesse e gli studenti che hanno registrato la certificazione di disabilità o la certificazione di DSA presso l'Ufficio Inclusione e diritto allo studio, possono chiedere di utilizzare le mappe concettuali (per parole chiave) durante la prova di esame.

A tal fine, è necessario inviare le mappe, due settimane prima dell’appello di esame, alla o al docente del corso, che ne verificherà la coerenza con le indicazioni delle linee guida di ateneo e potrà chiederne la modifica.

Teaching

The course has a practical approach, each lesson has a small introductory part followed by the practical part in which the student will have to carry out practical exercises based on material provided by the teacher.

Non-attending students will be able to use the material shared in the Google Drive folders, as well as the recorded demos on the teacher's personal website

https://sites.google.com/uniurb.it/stefanogambardella/lm9?authuser=0Il

Course books

The teacher entirely provides the material. There are no suggested books as the exam aims to provide practical independence.

Assessment

The final assessment of learning includes a practical test in which exercises will be carried out on the PC with the production of diagnostic reports, data analysis, genomic sequences

Disabilità e DSA

Le studentesse e gli studenti che hanno registrato la certificazione di disabilità o la certificazione di DSA presso l'Ufficio Inclusione e diritto allo studio, possono chiedere di utilizzare le mappe concettuali (per parole chiave) durante la prova di esame.

A tal fine, è necessario inviare le mappe, due settimane prima dell’appello di esame, alla o al docente del corso, che ne verificherà la coerenza con le indicazioni delle linee guida di ateneo e potrà chiederne la modifica.