The course aims to provide bio-molecular knowledge of the main metabolic dysfunctions that can lead to the onset of chronic diseases. Some molecular techniques of genome typing for diagnosing hereditary diseases and evaluating genetic predisposition to metabolic diseases will also be described.

1. Introduction to the course.
 

2. Omic Sciences

Human Genome Project

Genomic and -omic sciences

Metabolomic

Inherited metabolic diseases and non-inherited metabolic diseases 

3- inherited metabolic diseases

An international classification of inherited metabolic disorders

Neonatal Screening

Metabolic Carbohydrate Diseases

Mitochondrial diseases

Metabolic Protein Diseases

Congenital defects of glycosylation

3. Non-inherited  Metabolic Diseases:

Type 1 Diabetes Mellitus
Type 2 diabetes mellitus
Metabolic syndrome
Tumors

Furthermore, 20, recommended but not obligatory laboratory hours  lessons will be provided on the genomic typing of herditary  metabolic diseases

There are no prerequisites.

D1-Knowledge and understanding: The student must demonstrate that he has acquired mastery of the knowledge on the metabolic diseases covered in the course (knowledge and understanding);

D2-Ability to apply knowledge and understanding: The student must be able to correctly use the knowledge acquired to be able to identify the type of pathology under analysis from the molecular mechanisms

D3-Autonomy of judgement. The student must demonstrate the ability to critically analyze and argue the information acquired using appropriate terminology.

D4-Communication skills. The student must demonstrate the ability to clearly communicate the knowledge acquired.

D5-Learning ability. The student must demonstrate the ability to draw the logical conclusions that arise from the study of the 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

Teaching

-Frontal lessons

-Recent international scientific publications on topics of particular interest in the field of teaching.

Attendance

A basic knowledge of general biochemistry is required

Course books

Biochimica Medica Strutturale, metabolica e funzionale - Siliprandi e Tettamanti Ed. Piccin
Ciaccio e Lippi “Biochimica Clinica e Medicina di Laboratorio” - Ed. EdiSes

Assessment

The assessment is carried out through an oral exam consisting of at least three questions on topics indicated in the program.
The exam is passed if the student answers all the questions sufficiently. The evaluation will consider the knowledge of the topics, the clarity and organicity of the exposition, and the ability to make critical connections between the topics.

Disability and Specific Learning Disorders (SLD)

Students who have registered their disability certification or SLD certification with the Inclusion and Right to Study Office can request to use conceptual maps (for keywords) during exams.

To this end, it is necessary to send the maps, two weeks before the exam date, to the course instructor, who will verify their compliance with the university guidelines and may request modifications.

Attendance

A basic knowledge of general biochemistry is required

Course books

Biochimica Medica Strutturale, metabolica e funzionale - Siliprandi e Tettamanti Ed. Piccin
Ciaccio e Lippi “Biochimica Clinica e Medicina di Laboratorio” - Ed. EdiSes

Assessment

The assessment is carried out through an oral exam consisting of at least three questions on topics indicated in the program.
The exam is passed if the student answers all the questions sufficiently. The evaluation will consider the knowledge of the topics, the clarity and organicity of the exposition, and the ability to make critical connections between the topics.

Disability and Specific Learning Disorders (SLD)

Students who have registered their disability certification or SLD certification with the Inclusion and Right to Study Office can request to use conceptual maps (for keywords) during exams.

To this end, it is necessary to send the maps, two weeks before the exam date, to the course instructor, who will verify their compliance with the university guidelines and may request modifications.