Scheda programma d'esame
Academic year2020/21
PeriodSemester 1

Learning outcomes

Students of Neurogenomics course will be provided with robust basis on understanding the functional analysis and molecular mechanisms of the genes and the genomes related to the physiology and pathophysiology of the nervous system.

Assessment criteria of knowledge

Knowledge will be assessed by oral interview


Students will acquire the skills to analyze and discuss findings related to genetic/genomic studies in the field of neurophysiology and neuropathology. Students will also acquire the ability to design studies related to neurogenetic disorders by applying neurogenomic technologies and approaches.

Assessment criteria of skills

The skills acquired by the students will be assessed by means of oral examination.


The student will be able to discriminate the genetic contribution from other etiopathological factors in complex multi-factorial disorders of the nervous system. The student will be able to identify advantages and limitations of experimental and clinical strategies aimed to correct defective genes (gene therapy, cell therapy, etc.)

Assessment criteria of behaviors

The behavior acquired by the students will be assessed by means of oral examination.


Genetics as from the previous first level degree of the admitted students.


Good knowledge and education about anatomical and functional organization of the central nervous system is required.

Teaching methods

Classroom lectures, seminars, laboratory findings discussion.


“NeuroGenetics and NeuroGenomics” (Prof. Giovannoni)

The “NeuroGenetics and NeuroGenomics” part of the “Neurogenomics” course will focus on the functional and molecular analyses of the genes' and genome's work with regards to those elements and technologies relevant for neuronal physiology and pathology.

The following topics will be discussed by means of classroom lectures and seminars as well as interpretation and discussion of laboratory findings with the students:

  • Genetics and genomics in neuroscience: introduction, field of applications and perspectives in the context of neurology and neurosciences.
  • Chromatin dynamics, transcriptional control, translational feedback loop and epigenetics in the circadian rhythm regulation (and viceversa)
  • Gene networks at the basis of evolution of speech and language
  • From the "monogenic disease" concept to the multi-gene and genome contribution in hereditary neurodegenerative disorders, the case of triplet repeat expansion diseases: molecular mechanism of mutation and its effects on the disease course; contribution of other genes in the genome in the disease onset and progression; molecular genetics of the “non-cell autonomous effect” in triplet repeat expansion disorders and the molecular role of glia in the pathogenesis and disease progression
  • The molecular complexity of CNS cancer, how the genetics and the genomics contribute to the definition of cells, mutations heterogeneity, drug resistance and tumor evolution: cues from single cell genetic and genomics analyses in brain cancer
  • Genetic tools for studying functions and dysfuctions of the central nervous From recombinase mediated genetic editing (i.e. BRAINBOW) to CRISPR/Cas9 technique (i.e. ORANGE technology). 

“Physiopathology and treatments of CNS genetic diseases” (Dr. Strettoi)

The “Physiopathology and treatments of CNS genetic diseases” part of the “Neurogenomics” course will focus on various diseases of the CNS with underlying genetic defects to illustrate genotype-phenotype correlations and experimental and clinical stage approaches to improve the disease outcome. The visual system will be often used as a paradigm to illustrate concepts and tools to which other genetic diseases of the CNS will be compared to obtain general notions. Lectures involving specific CNS areas (i.e. the callosal body; motor areas pertinent to the mirror system; etc.) will be introduced by summaries of the main anatomical organization, relevant morphological features, basic nomenclature and position in the brain as well as fundamentals of physiology. Indications for usage of web-based tools to navigate the brain will be provided. Various topics will comprise an experimental part illustrating modern methodological tools for the study of the CNS. Navigation and search of for the genetic diseases under study will be performed.


  1. General anatomy of the Fundamental nomenclature. Inherited photoreceptor degenerations. From mutations to phenotype: known and (many) unknown cellular pathways to photoreceptor death starting from hundreds of mutations in 66 different genes. Retinitis Pigmentosa. The examples of rhodopsin and phosphodiesterase mutations. Retinal Pigment Epithelium, visual cycle and Leber Congenital Amaurosis. High photoreceptor efficiency and great genetic vulnerability .
  2. Gene therapy from bench to From RPE65 mutations to commercially available Luxturna®. Ongoing gene therapy and open clinical trials for Retinitis Pigmentosa, Leber Congenital Amaurosis, Achromatopsia. Subretinal injections, intravitreal injections, ocular and global immune responses.
  3. Viral Vectors for ocular gene therapy; limitations, targeting of specific The undisclosed issue of inflammatory response to capsids. The problem of correcting gain-of function mutations. Optogenetics to restore light sensitivity: state of the art of cell- specific promoters and extension to other genetic diseases. How to search and understand
  4. Alternative approaches to neuronal rescue: inhibition of apoptosis mediated by ceramide using small Manipulations of the environment to promote retinal rescue (environmental enrichment: definition, effects). Neurotrophins as neuroprotectants. Prostheses: Argus II and epiretinal prostheses. Subretinal approach. Expected recovery of vision. The cochlear implant, similarities and differences with retinal prosthesis. The artificial nose: applications.
  5. Alzheimer, Parkinson and General principles and latest discoveries on multiple roles of Tau (including the nuclear access). Antibody therapy to target specific cellular functions and localization. Examples of rare genetic patients of a given pathology (i.e. Parkinson’s disease) as guidance for the discovery of the mechanisms of these diseases.
  6. Protein targeting in neurodegenerative diseases by antibody design and The case of Alzheimer, alpha-beta amyloid accumulation and employment of conformational specific antibodies. In vivo targeting of intracellular organelles. The immune response in the CNS as a limiting factor for drug (or viral vectors; or protein;) delivery. The Blood brain barrier: consequences for pharmacological treatment and gene therapy to access to the brain. Ebola and Zika in the eye.
  7. Cell therapy for neurodegenerative diseases of genetic Organoids as recent tools for cell-based repair therapy and diagnosis of genetic defects. Brain organoid. The brain in a dish. The eye in a dish. Experimental advantages, perspectives and limitations.
  8. Connecting two parts of the The callosal body organization and function. Complete Agenesis of the Callosal Body, pathophysiology and examples of underlying genetic defects. Mutations in Deleted in Colorectal Cancer gene and the multiple functions of the DCC protein. The callosal body: the largest commissural organ of myelinated fibers in the CNS.
  9. Regeneration and lack of regeneration in mammalian Central and peripheral myelin organization and molecular composition. Nogo, NgR, MAG. Inhibition of regeneration due to central myelin determinants. Reaction of injury in central and peripheral nerves. The case of dorsal root ganglia to study central and peripheral myelin effects in a single neuron. Possible involvement of mutations of myelin inhibitor genes in schizophrenia.
  10. Manipulation of regenerative capacities of the CNS by interference with the microenvironment: peripheral nerve grafts, employment of olfactory ensheating glia, electrical stimulation. Dorsal root ganglia as tools to study central and peripheral myelin in the same neuron.
  11. Mirror neurons and mirror system in monkeys and Localization, basic physiological properties, possible implications in empathy and autism. Mirror system in birds. Correlation with articulated language. Mirror system dysfunctions in mammalians. Autism. Possible genetic causes. The TRIO gene and its effects on the development and regulation of the strength of connections between brain cells. Mutations in TRIO.

1) Textbooks (suggested):

"Genetica molecolare umana ", by Tom Strachan & Andrew P. Read (Zanichelli) "Introduzione alla Genomica", by Greg Gibson & Spencer Muse (Zanichelli)

"Principles of Neural Science", by Eric R. Kandel, J.H. Schwartz and other Authors (5th edition)

"Applied Neurogenomics" Neuromethods series, Volume 97, by Kewal K. Jain (Humana Press)

2) Review and selected papers will be discussed and provided to the students via the dedicated e-learning website of the course

Non-attending students info

All the information about the Neurogenomics course are available in the dedicated teaching website of the Master degree in Neurosciences. The teaching material is made available for students via the e-learning platform of the Neurogenomics course

Assessment methods

Oral interview

Updated: 03/09/2020 10:28