Molecular diagnostic and therapy

A.A. 2021/2022
6
Crediti massimi
42
Ore totali
SSD
BIO/13 BIO/14 MED/26 MED/36
Lingua
Inglese
Obiettivi formativi
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.
Risultati apprendimento attesi
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.
Programma e organizzazione didattica

Edizione unica

Responsabile
Periodo
Terzo trimestre
More specific information on the delivery modes of training activities for academic year 2021/22 will be provided over the coming months, based on the evolution of the public health situation.
Programma
Radiology:
MRI:
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.
Pharmacology:
Pharmacological treatment of schizophrenia
Pharmacological treatment of autism spectrum disorder
Pharmacological treatment of epilepsy
Pharmacological treatment of mood disorders
Pharmacological treatment of Parkinson's disease
Pharmacological treatment of Alzheimer's disease
Applied Biology:
Modeling the blood-brain barrier in drug discovery and development.
Strategies for the delivery of drug to the Central Nervous System
Nanocarriers as drug delivery devices to cross the blood-brain barrier.
Prerequisiti
The student has to pass the 6 common exams of the first two quarters.
Metodi didattici
Teachers give lectures for 6 ECTS (42 hours), using PPT presentations which are available for the students
Materiale di riferimento
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.
Modalità di verifica dell’apprendimento e criteri di valutazione
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.
Moduli o unità didattiche
Applied Biology
BIO/13 - BIOLOGIA APPLICATA - CFU: 1
Lezioni: 7 ore

Neurology
MED/26 - NEUROLOGIA - CFU: 2
Lezioni: 14 ore
Docente: Ronchi Dario

Pharmacology
BIO/14 - FARMACOLOGIA - CFU: 2
Lezioni: 14 ore

Radiology
MED/36 - DIAGNOSTICA PER IMMAGINI E RADIOTERAPIA - CFU: 1
Lezioni: 7 ore
Docente: Ottobrini Luisa

Docente/i
Ricevimento:
per appuntamento - contattare maura.francolini@unimi.it
Via Vanvitelli, 32 - 20129 Milano Dipartimento di Biotecnologie Mediche e Medicina Traslazionale
Ricevimento:
Previo appuntamento telefonico o email
Dip. di Biotecnologie Mediche e Medicina Translazionale, Via Vanvitelli 32
Ricevimento:
previo appuntamento da concordare via e-mail