Combined Bachelor's + Master's degree in Medicine and Surgery

Molecular mechanisms of sensory transduction diseases  (Corso Elettivo)

Course code
4S009435
Name of lecturer
Daniele Dell'Orco
Coordinator
Daniele Dell'Orco
Number of ECTS credits allocated
1
Academic sector
BIO/10 - BIOCHEMISTRY
Language of instruction
Italian
Period
2° semestre dal Feb 22, 2021 al May 28, 2021.

Lesson timetable

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Learning outcomes

The course aims to provide a molecular perspective on the alteration of basic biochemical and biophysical mechanisms in hereditary sensory pathologies. The phototransduction cascade underlying the triggering of the visual process and the molecular basis of hereditary retinal degenerations will be presented in detail as a paradigmatic example of sensory disease. The most innovative therapeutic approaches for the treatment of rare sensory diseases will also be mentioned.

Syllabus

- Receptors and signal transduction in sensory systems. From stimulus to electrical response.
- The phototransduction cascade in cones and rods as a paradigmatic GPCR-mediated cascade. Genetic diseases of the retina: retinitis pigmentosa, cone and cone-rod dystrophies. The retinoid metabolism and its alteration in hereditary visual diseases.
- Signal transduction in cochlear hair cells and hearing. Genetic alterations of mechanotransduction mechanisms. Hereditary deafness and non-syndromic genetic hearing loss. Usher's syndrome: deafness associated with retinitis pigmentosa.
- Biochemistry of taste and olfaction. Molecular analogies with the visual cascade. Introduction to the genetic alterations of taste and smell. Olfactory sensitivity, hyperosmia and anosmia.
- Innovative therapeutic approaches: gene therapy, liposomes and nanovesicles as transporters of therapeutic molecules, genome editing based on CRISPR/Cas tools.

Reference books
Author Title Publisher Year ISBN Note
Brady, TS. T et al. Basic Neurochemistry, Eighth edition. Academic Press  
Smith, C. U. M. Biology of Sensory Systems, Second Edition  

Assessment methods and criteria

Based on attendance. Presence is compulsory for at least 4 of 5 lectures.





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