Molecular diagnostics and therapy

A.Y. 2020/2021
Overall hours
BIO/14 MED/26 MED/36
Learning objectives
The Course intends to provide students with a strong background on the molecular pathogenesis of inherited neurological disorders, with emphasis on the diagnostic approaches and the most innovative therapeutic strategies. In line with this, student will also study the most recent neuroimaging approaches in different pre-clinical and clinical settings. Finally, the course contains a module of neuropsychopharmacology that will provide the pharmacological bases for the treatment of all neurological and psychiatric disorders described during the entire curriculum.
Expected learning outcomes
Students will learn about how to use biotechnological approaches for the diagnosis and treatment of inherited neurological disorders and the physical bases and possible applications of the most important imaging techniques for the study of CNS (MRI, fMRI, PET/SPET). They will learn about the rational use of drugs in neurology and psychiatry on the basis of their molecular and cellular mechanisms of action.
Course syllabus and organization

Single session

Lesson period
Third trimester
All classes planned during the third trimester of the first year of the Master Degree Medical Biotechnology and Molecular Medicine, will be given as frontal teaching and distance synchronous learning. In case of a new suspension of frontal lectures, all students will be asked to move to distance synchronous learning.
Each hour of lesson will be divided into 45' of formal teaching followed by 15' of discussion/interaction/question time. All lessons will be recorded and made available for students on the indicated platforms (i.e. Ariel, TEAMS, etc).
Unless otherwise specified, exams will be organized in classroom but if the student is unable to reach the building for COVID-related issues, other forms will be considered (this apply for exams scheduled until the 31st July - 2021).
Course syllabus
Principles and methods that underpin Magnetic Resonance Imaging (MRI)
MRI methodology, and the molecular basis for endogenous contrasts.
Anatomical Imaging and MRI.
Advanced applications: fMRI, Diffusion weighted imaging, Perfusion studies, Spectroscopy.
Clinical example for different pathologies.

Nuclear based techniques:
Principles and methods of single photon emission tomography (SPECT), positron emission tomography (PET) imaging procedures.
The course will include a description of the most important and innovative radiopharmaceuticals for Nuclear Medicine in CNS imaging studies as well as the importance of quality control involved in clinical molecular imaging.
Image analysis methods will be presented with particular attention to Statistical Parametric Mapping.
Examples in different clinical pathologies will be presented.
Neurology :
Molecular basis of inherited neurological disorders, including motor neuron diseases and metabolic encephalopathies.
Genetics of spinal muscular atrophies, SMN-related SMA, Spinal muscular atrophies with respiratory distress, Progressive myoclonic epilepsy-SMA and others.
Genetics of familial Amyotrohic Lateral Sclerosis and overlap with Fronto-Temporal Dementia.
Mendelian and matrilinear genetics of mitochondrial encephalomyopathies.
Disorders of glucose and glycogen metabolism affecting brain and skeletal muscle.
Principles and application of gene therapy to recessive inherited disorders.
Oligonucleotide and small molecule therapies for neurological disorders.
Sedative-Hypnothic drugs
Antiseizure drugs
Antidepressant agents
Drugs for Parkinson's and Alzheimer's diseases
Pharmacology of analgesia
Drugs of abuse
Antipsychotic agents
Prerequisites for admission
The student has to pass the 6 common exams of the first two quarters.
Teaching methods
Teachers give lectures for 6 ECTS (42 hours), using PPT presentations which are available for the students
Teaching Resources
Students will receive pdf files of the presentations used during the lectures. Moreover review articles will be available on the different topics. Text books will be suggested.
Assessment methods and Criteria
Oral test. The evaluation parameters concern the completeness of the knowledge, the capacity for critical reasoning and the appropriateness in the use of specialized vocabulary.
MED/26 - NEUROLOGY - University credits: 2
Lessons: 14 hours
Professor: Ronchi Dario
BIO/14 - PHARMACOLOGY - University credits: 3
Lessons: 21 hours
MED/36 - IMAGING AND RADIOTHERAPY - University credits: 1
Lessons: 7 hours
Professor: Ottobrini Luisa