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Neuronal Development: from stem cell to human therapy

Organizer: Pascal Escher

 

1 ECTS

 

SUMMARY
The retina is a model system for neuronal development. This course presents the general anatomy, embryology, biochemistry and electrophysiology of the vertebrate retina (human, mouse and zebrafish), with a special emphasis on the evolutionarily-conserved regulatory transcriptional networks, driving the commitment and the terminal differentiation from a single pool of retinal progenitors towards all the different neuronal and glial cell types. Human retinal dystrophies will be discussed in the context of emerging virus-based gene therapies and stem cell-based therapies.

1. Retinal development and retinal repair

  • Anatomy of the eye and the retina.
  • Structure and function of retinal cell types: neurons (photoreceptors, bipolar, horizontal, amacrine and ganglion cells), glia (Müller cells), microglia, astrocytes, pigment epithelium.
  • Development of the eye and retina: evolution of vision, conservation of retinal development among vertebrates (human, mouse, zebrafish).
  • Retinal progenitor cells: pluripotency, patterning, plastic lineages.
  • Retinal repair: transplantation, stem cells, in vitro development.

2. Biochemistry and electrophyiology of the retina

  • Retinal pigment epithelium: biochemistry, photoreceptor phagocytosis.
  • Retinal vitamin A metabolism: rod and cone visual cycle, gene therapy.
  • Phototransduction cascade and recovery process.
  • Color vision: electrophysiology, phylogeny, gene therapy.
  • Retinal circuitry: basic electrophysiology, electroretinography.

3. Transcriptional networks in the vertebrate retina

  • Eye- and retina-specific homeobox transcription factors: SOX2, RX (RAX), PAX6, SIX, VAX, CHX10, OTX, CRX.
  • Pax6 and eye development: lessons from drosophila.
  • Photoreceptor development: OTX, CRX, NRL and nuclear receptors (RAR, RXR, TR, TLX, PNR/NR2E3).
  • Genetics of inherited retinal diseases.
  • Disease mechanisms of transcription factor-linked retinal dystrophies: Leber congenital amaurosis, Retinitis pigmentosa, Goldmann-Favre syndrome, Color vision defects
     

 

DATES, TIME and LOCATION (in 2013)
The course takes place on Tuesday at the Centre Medical Universitaire (CMU), Rue Michel-Servet 1, Geneva.
Please note that we will use 3 different rooms. You can click on these links to see their location:

  • 9 April 2013, from 15-18h - room S4-S5, 2nd floor (shown as two separate rooms in the map: SIV and SV)
  • 16 April 2013, from 15-17h - room 2040A, 2nd floor
  • 23 April 2013, from 15-17h - room D60, 1st floor
  • 30 April 2013, from 15-17h - room S4-S5, 2nd floor
  • 7 May 2013, from 15-17h - room S4-S5, 2nd floor
  • 14 May 2013, from 15-18h - room S4-S5, 2nd floor

 

EVALUATION
The examination will be based on papers to be read and presented by the students. The selected papers are grouped by topics and the presentations by the students directly integrated into the corresponding chapters of the course, starting with the second session of the course.

 

PROPOSED TEXTBOOKS
The Eye, third edition, 2008; editors: J. V. Forrester, A. D. Dick, P. G. McMenamin, F. Roberts; Saunders Elsevier.
Eye, Retina, and Visual System of the Mouse, 2008; editors: L. M. Chalupa and R. W. Williams; MIT Press.

 

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