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Dr Gaia Gestri
Cell and Developmental Biology
Anatomy Building, Gower St
Dr Gaia Gestri profile picture
  • Senior Research Associate
  • Cell & Developmental Biology
  • Div of Biosciences
  • Faculty of Life Sciences

I undertook my undergraduate studies at the University of Pisa and my PhD in Guiseppina Barsacchi’s lab addressing eye formation in amphibia, particularly focussing on the transcription factor network that specifies the eye.   Our results elucidated some of the pathways and mechanisms involved in eye specification.  Specifically, we showed that the combined expression of seven transcription factors is sufficient to induce an ectopic eye in a region that, under normal conditions, is incompetent to generate neural tissue.  Among these factors, we studied the function of Xsix3 and Xrx1 in detail.  Our basic research contributed to the understanding of the aetiology of human patients suffering from impaired eye formation and vision as a result of six3 and chx10 haplo-insufficiency.
Following this, I obtained EMBO, Accademia Nazionale dei Lincei, Royal Society and Telethon Fellowships that enabled me to move to UCL in 2004.   More recently I have been joint principal investigator on MRC project and Programme grants that have supported my salary and I am currently a Senior Research Fellow in the Department of Cell and Developmental Biology.   

Academic and Higher Qualifications:
 2003: PhD Doctor of Philosphy-Developmental Biology,  University of Pisa. 
 1998: Graduated with honours (110/110 magna cum laude) -Biology, University of Pisa. 

Research Groups
Research Themes
Research Summary

The goal of my research is to contribute to our understanding of the genetic and cellular bases of vertebrate eye development in health and disease. 

Congenital ocular deficits arising from abnormal eye development are common in the human population since they are often compatible with life and reproduction.  Indeed, the eye is involved in almost one-quarter of all the phenotypes listed in "Mendelian Inheritance in Man" (OMIM). Microphthalmia, anophthalmia and coloboma (MAC) are amongst the most severe ocular defects and although there is geographically variability, MAC phenotypes are observed in about 2-3.5/ 10,000 live births. Despite the fact that MAC is associated with severely impaired vision, little is known about the genetic and cellular mechanisms that underlie these severe malformations. There are some monogenic cases of MAC but mutations in, or altered activity of, multiple genes undoubtedly contributes to the majority of human MAC spectrum phenotypes. Our poor understanding of congenital eye defects is in large part due to our lack of understanding of normal eye development. Consequently, it is imperative to improve our knowledge of the genetic pathways, cell behaviours and developmental mechanisms underlying eye development in both health and disease.  Our approach to address this research challenge is to study eye formation in zebrafish in both normal embryos and in embryos carrying mutations in candidate disease genes that lead to abnormal eye formation. 

Zebrafish embryos are well suited to studying complex dynamic morphogenetic events given their external fertilization, small size, transparency and genetic tractability. Through the use of targeted CRISPR-Cas9 genome editing as well as  forward genetic screes we generate mutant alleles for genes in several genetic pathways implicated in eye formation.  Given the high conservation of the developmental mechanisms underlying eye formation, often these genes are implicated in congenital abnormalities of human eye formation. Combining these genetic resources with the availability of new tools and reagents to label and image cells and sub-cellular components in vivo, we have great potential to make major insights into the cellular basis of eye formation.  

One of our ongoing projects is addressing the role of the Yap signalling pathway and extra-cellular matrix in closure of the choroid fissure, a transient opening in the ventral eye.  Both in zebrafish and in humans, disrupted Yap function can lead to coloboma, a condition in which the fusion of the fissure fails to occur. 

In collaborative projects with Christiana Ruhrberg (Institute of Ophthalmology) and others, I have also been studying the genetic pathways and developmental mechanisms underlying vasculogenesis. 

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