Università degli Studi di Urbino Carlo Bo / Portale Web di Ateneo


MEDICAL GENETICS
MEDICAL GENETICS

A.Y. Credits
2021/2022 3
Lecturer Email Office hours for students
Stefano Gambardella

Assigned to the Degree Course

Biomolecular and Health Sciences (XXXVII)
Curriculum: PERCORSO COMUNE
Date Time Classroom / Location
Date Time Classroom / Location

Learning Objectives

The course aims to share and transmit the main biological and bioinformatics topics in Medical Genetics. Through practical and interactive examples, will be shown the process starting from the clinical question, to the management of a genetic diagnostic report. 

The following points will be analyzed:

- collection of detailed family history, 

- identification of the inheritance pattern of a hereditary genetic disease, 

- Selection of the most appropriate molecular technology to answer the clinical question 

- Interpretation of the data produced by the Next Generation sequencing analysis

- Production of a diagnostic report

- Management of the obtained results within clinical and therapeutic approaches

Teaching Material

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: 25/08/2022

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