Investigating a gene
Investigating a Gene is the IMO Foundation's collaborative project to research rare diseases that affect vision and cause blindness and low vision.
Rare diseases are a series of uncommon pathologies that affect a limited number of the population. According to the Spanish Federation of Rare Diseases (FEDER), it is estimated that there are between 5,000 and 7,000 different rare diseases, affecting 6%-8% of the world's population. The lack of knowledge surrounding these pathologies, which often have a genetic origin, makes their diagnosis and treatment very difficult.
Of all the rare diseases, retinal dystrophies stand out for their severity. These pathologies cause a progressive loss of vision that can't be stopped. The darkness that retinal dystrophies cause in those who suffer from them is also transferred to the field of research, since the genes involved in their appearance are complex to study. Specifically, the molecular study of the ABCA4 gene, which causes several hereditary retinal dystrophies and which manifests itself during childhood, presents great difficulty in analysis, given its large size and the complexity of its structure.
With this project, the IMO Foundation will analyse this gene in depth using new mass sequencing strategies. The aim is to identify new pathogenic variants and provide greater knowledge of this gene and its related pathologies, such as Stargardt's disease, cone and rod dystrophy or retinitis pigmentosa, which seriously affect vision and can even lead to blindness.
We want to shed light on the prognosis of these pathologies and initiate the path towards new approaches to treatment, since exhaustive knowledge of the causal gene is indispensable for designing and applying gene therapies in the near future. Our comprehensive research on the ABCA4 gene can change many lives, and with your help, we can do it!
New horizons in 2020
We call this challenge Investigating a Gene, a project initiated in 2016, the result of the joint action of patients, geneticists and ophthalmology professionals, who created the roadmap for this expedition through a brainstorming session. The initial objective of Investigating a Gene was to obtain 100,000 euros for the development of the first phase of the project: to analyze in depth the entire ABCA4 gene, with the aim of identifying and characterizing pathogenic variants not yet described. The collaborative nature of this project was also reflected in the creation of the campaign #gafasGENiales, a solidarity cord for glasses which, with the collaboration of Custo Barcelona, helped us to disseminate our research and raise funds to carry it out. In 2018 we reached the necessary funds for the development of the first phase of the research: the in-depth exploration of the ABCA4 gene.
As of today, our research has made great progress. A cohort of more than 80 families with a known genetic cause in the ABCA4 gene is currently being studied. Based on their samples, new genotype-phenotype correlations are being characterised, making it possible to establish the relationship between the gene mutation and its physical expression in a visual pathology. At the same time, together with another IMO Foundation research project, we are working on the generation of different cellular models, obtained from skin biopsies of two patients affected by Stargardt's disease with mutations in the ABCA4 gene, which will be used to analyze how the pathology evolves.
The next phase of the study consists of the "in vitro" correction of the altered genes using the revolutionary new CRISPR-Cas9 gene therapy technology. In this way, if the results in our molecular biology laboratory show that the methodology corrects the mutations and that it is also safe to stop the loss of vision, the door will be opened for its future application in patients.
Walking together to go further
This motivation that drives the IMO Foundation also moves the patients and families affected, whom we wanted to involve as key pieces of the expedition. We are looking for more members for this expedition that has no limit of hope or passengers! Will you join the challenge of "Investigating a Gene"?
The IMO Foundation
The IMO Foundation was created in 2010 to promote new ways to improve vision and, through it, the quality of life of people. To this end, it carries out its work in four areas of action: it brings together ophthalmology and genetics in research projects in a pioneering way; it is committed to social action to provide good visual health to groups of schoolchildren and adults at risk of social exclusion; it promotes care for patients from ophthalmological risk groups through prevention and early diagnosis campaigns; and it encourages scientific collaboration and the training of new generations of professionals through teaching.
In the field of research, the IMO Foundation has made it possible to channel more than 20 years of experience in clinical trials and, in turn, has promoted the development of genetic studies. In addition to promoting the current research on the ABCA4 gene, three more projects are being carried out in the IMO molecular biology laboratory to find the causes of various eye diseases that are currently incurable: the project to identify new genes for retinal dystrophies, the project on IPS cells as a study tool and model for implementing the CRISPR-CAS system in the treatment of retinal dystrophies, and the project to identify new genetic variants responsible for Stickler's Syndrome. These investigations are possible thanks to the support of entities and people like you.
The Fundació de Recerca de l'Institut de Microcirurgia Ocular (the IMO Foundation) is a non-profit organisation, with ID number G65299950, so the donations it receives will be subject to the tax deductions set out in Spanish Law 49/2002, of 23 December, on the tax regime for non-profit organisations and tax incentives for patronage. You can find more information about this here.