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Understanding and reprogramming developmental visual disorders: from anophthalmia to cortical impairments

Life and Matter Sciences International Symposium Thursday and Friday, 30 and 31 January 2020, 9:30 hours Madrid

General information:

Venue: Fundación Ramón Areces. Calle Vitruvio, 5. 28006. Madrid. 

Free admission. Necessary previous online registration. Limited capacity.  

Organized by:

Fundación Ramón Areces

In cooperation with:

Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) and Consejo Superior de Investigaciones Científicas (CSIC)


Paola Bovolenta Centro de Biología Molecular Severo Ochoa (CBMSO), CSIC-UAM and CIBERER.

Marta Nieto López Centro Nacional de Biotecnología (CNB), CSIC.

  • Description
  • Programme

A large part of mammalian behavior depends on visual perception and thus on the establishment of appropriate afferent and efferent connections among the different CNS regions that together form the visual system.  The visual system is primarily composed of three structures: the eye (with its neural component, the retina), the thalamus and the visual cortex, which are precisely connected: the retina is wired to the thalamic lateral geniculate nucleus (LGN) by the axons of the retinal ganglion cells, which extend along the optic nerve, chiasm and tract (proximal visual pathway). The LGN neurons, in turn, project to the primary visual cortex, forming the optic radiation (secondary pathway). The primary visual cortex projects back to the LGN and forms extensive circuits with other cortical areas, sustaining the coordination between visual perception and other behaviors. The resulting integrative network provides optimal computing for responding to the external visual information that surrounds us. Failure in specification of the brain regions involved in receiving or processing this information as well as alterations in their connectivity lead to neurodevelopmental visual disorders (NDVD), which are largely incurable. The poor therapeutic success is, at least in part, associated with their most common origin: the impairment of gene function during embryonic development. Symptoms, and thus diagnosis, however manifest after birth or in childhood/adolescence, when the brain has already reached a consolidated organization, making therapeutic approaches so far unfeasible. NDVD are rare diseases with a frequency of about 2.4 per 10,000 newborns but are impairing to the point that they often perturb the general development of affected infants. They have heterogeneous genetic origins that nevertheless often lead to common morphological features, such as reduction in neuronal numbers, heterotopias, defects in neuronal branching and connectivity, as well as to strong neurological defects that may include, besides poor or absent vision, epilepsy, intellectual deficits, or abnormal social behavior, a commonality to other rare diseases with neurodevelopmental origin. Thus, NDVD represent an important but poorly studied and unresolved societal burden. 

There are two classes of NDVD, classified according to their primary anatomical origin. The first class includes disorders that affect the anterior visual pathway. Prominent examples are severe malformations of the eye leading to partial or total loss of vision, known as microphthalmia, anophthalmia and coloboma (MAC). In many instances, genetic analyses of MAC have identified heterozygous mutations in genes fundamental for nervous system development but that result in restricted disease phenotypes. The second class of NDVD, collectively termed cerebral visual impairment (CVI), is composed of heterogeneous (restricted/mild to widespread/severe) conditions affecting the posterior visual pathway, in the absence of anterior defects. Inheritable congenital prosopagnosia (the inability to recognize familiar faces) is an example of a mild CVI, whereas severe forms show developmental delays and/or intellectual disabilities. Unfortunately, beyond the identification of a few genetic causes and a partial description of the related phenotypes, we are far from understanding how a defect in any one of the visual structures impacts on the remaining visual territories and on the brain as a whole. It is also unclear how the brain adapts to these defects and how we can make use of this plasticity. A limitation for finding answers to these problems is the availability of suitable animal models. 

In the latter years, coordinated European-funded research has begun to fill this gap identifying new potential gene candidates to explain NDVD and designing new animal models that allow to study the above questions, providing information on overall brain reorganization after genetic alterations in specific brain region. This research has also fostered studies in human samples and opened avenues to therapeutic approaches through in vitro and in vivo cell reprogramming. The proposed workshop is designed to be a forum for discussing recent progress on NDVD and to draw the attention of the society to this class of neglected rare diseases. The workshop will navigate around two of the fundamental columns supporting the formation of visual circuits: 1) the existence of conserved modules of genetic networks that instruct the specification of the different visual territories and the coordinated assembly of their circuits; 2) the possibility of brain repair through the latest advancements in in vivo lineage reprogramming that may allow to replace defective or even missing circuitry components and boost neural plasticity, to possibly finally treat NDVD in the future. Leaders in different fields of neurobiology will provide a comprehensive view of the current state-of-the-art covering aspects such as mouse models of NDVD, molecular specification of visual networks, system biology defining neuronal models, electrophysiological assessment, and cell reprogramming, with particular attention to translational aspects. The goal is to generate fruitful forum of discussion on the full consequences that a genetic defect in one visual structure has on the rest of the connected CNS areas and on how to correct the impaired circuits and the lost functions. 

In a broader perspective, this workshop should attract the attention of individuals interested in the understanding and managing other rare neurodevelopmental diseases, given that NDVD represent just one of the many examples of how defects in the assembly of human brain circuits during embryonic/childhood development has devastating consequences in the affected individuals. We thus believe that the proposed workshop should attract the attention of different researchers and stockholders, hopefully increasing society awareness on a set of poorly understood congenital rare diseases, bringing this important discussion closer to our national communities. Most importantly, this workshop intends to contribute to the setting of novel grounds of interactions and knowledge to improve the prognosis and treatment of patients with rare diseases. 


Thursday,  30 January

9:00 h.

Attendees check-in

9:30 h.


Federico Mayor Zaragoza 
Presidente del Consejo Científico de la Fundación Ramón Areces.

Paola Bovolenta 
Centro de Biología Molecular Severo Ochoa (CBMSO), CSIC-UAM,  and Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), ISCIII. Madrid, Spain.

Marta Nieto López 
Centro Nacional de Biotecnología (CNB), CSIC. Madrid, Spain.

Session 1: Early development and specification of the visual system

 9:45 h.

Is there a common regulatory network that orchestrates the assembly of visual circuits?

Paola Bovolenta
Centro de Biología Molecular Severo Ochoa (CBMSO), CSIC-UAM, and Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), ISCIII. Madrid, Spain.

10:30 h.

Role of Netrin and DCC in the developing visual system  

Alain Chedotal
Sorbonne Université, Institut de la Vision. Paris, France.


11:15 h.


 11:30 h.

Bifurcation of the neural retina and retinal pigment epithelium specification networks: From optic cup morphogenesis to retinal degenerative diseases

Juan Ramón Martínez Morales
Centro Andaluz de Biología del Desarrollo (CABD), CSIC-UPO, Seville, Spain.

12:15 h.

Retinal pigmented epithelium development from the perspective of transcription factors and cis-regulatory elements

Ruth Ashery-Padan
Tel Aviv University, Israel.


13:00 h.


Session 2: Wiring and plasticity of thalamus and cortex

 15:15 h.

Sox2 control of gene regulatory networks in neural stem cells and visual system development

Silvia Nicolis
University of Milano-Bicocca. Milano. Italy.

16:00 h.

How patterned spontaneous activity helps wiring the developing visual cortex 

Christian Lohmann
Netherlands Institute for Neuroscience. Amsterdam, Netherlands.­­­­­­­

 16:45 h.

Sensory dependent interhemispheric plasticity in the developing visual cortex

Marta Nieto
Centro Nacional de Biotecnología (CNB), CSIC. Madrid, Spain.


Friday, 31 January

9:00 h.

Attendees check-in

Session 3: From animal models to humans: towards managing and treating diseases

 9:30 h.

The peripheral eye: A neurogenic area with potential to treat retinal pathologies?

Eloísa Herrera
Instituto de Neurociencias de Alicante. INA, CSIC-UMH. Alicante, Spain.

10:15 h.

Visual and cognitive impairments in a mouse model of a recently-described neurodevelopmental disease 

Michèle Studer 
Institute of Biology Valrose, University of Nice Sophia Antipolis. Nice, France.


11:00 h.


 11:15 h.

Albinism: no longer a pigmentation problem but essentially a visual deficit

Lluís Montoliu
Centro Nacional de Biotecnología (CNB), CSIC, and Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), ISCIII. Madrid, Spain.

12:00 h.

Engineering neurogenesis in the postnatal cerebral cortex  

Benedikt Berninger
Centre for Developmental Neurobiology, MRC Centre for Neurodevelopmental Disorders, King's College London. London, United Kingdom.


12:45 h.


Session 4: Plasticity and Recovery

 15:00 h.

How the human brain adapts to losing and recovering sight

Olivier Collignon
Université Catholique de Louvain. Louvain-la-Neuve, Belgium.

15:45 h.

Running towards plasticity: active training for amblyopia recovery 

Alessandro Sale  
Neuroscience Institute of National Research Council of Italy (CNR). Pisa, Italy.

16:30 h.

Closing lecture: Experimental approaches to the study of sensory, emotional and cognitive deficits in laboratory animals  

José Maria Delgado-García
Universidad Pablo de Olavide. Seville, Spain.

17:30 h.

Closing remarks 


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