Molecular diagnostics and therapy

A.Y. 2017/2018
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 tis, 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
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.
Course syllabus
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.
Course syllabus
Sedative-Hypnothic drugs
Antiseizure drugs
Antidepressant agents
Drugs for Parkinson's and Alzheimer's diseases
Pharmacology of analgesia
Drugs of abuse
Antipsychotic agents
MED/26 - NEUROLOGY - University credits: 2
Lessons: 14 hours
BIO/14 - PHARMACOLOGY - University credits: 3
Lessons: 21 hours
MED/36 - IMAGING AND RADIOTHERAPY - University credits: 1
Lessons: 7 hours
Professor: Ottobrini Luisa