Investigating a gene
At the IMO Foundation, we have an exciting challenge: to research the unknown parts of the ABCA4 gene to better understand the location of some of the mutations causing hereditary dystrophies of the retina such as Stargardt disease and to be able to provide treatment with gene therapies.
IMO's molecular biology laboratory, where an experienced team of five research geneticists works, is the centre of operations for this exciting journey. They will use new massive sequencing strategies which will be able to analyse the entirety of the ABCA4 gene with the aim of identifying and characterising pathogenic variants which still haven't been described.A long road filled with small stages that we want to start as soon as possible with your help.
Base camp Going to inhospitable and unexplored lands which hold the keys to Stargardt disease and other retinal dystrophies.
Stage 1: September 2016
Stage 2: March 2017
Stage 3: September 2017
Stage 4: March 2018
Stage 5: September 2018
Target 1: Conquering knowledge, identifying and characterising new mutations of the ABCA4 gene.
Target 2: Expanding the research to achieve even more success and begin studies with gene therapies.
Join us on the ABCA4 gene expedition!
We have the desire, team and knowledge to take this ambitious challenge on but we need a little boost to help us fund it with the following targets and provisional schedule: €100,000 to begin the research in September and achieve the first target within two years and an additional €70,000 to continue the journey and achieve the second target.
We really believe that we can improve knowledge of the ABCA4 gene and its related pathologies. But we also want to start work on gene therapies, why give up this dream when it is so close?
Mutations in the gene ABCA4 cause various retinal dystrophies including Stargardt disease, a rare hereditary ocular pathology affecting 1 in 10,000 young people and causing early degeneration of the macula.It is in this central part of the retina where the greatest number of photoreceptors are found and when a genetic mutation impedes the correct functioning of these cells, the patient suffers a gradual loss of vision which cannot currently be halted.
The darkness that Stargardt disease causes in those who suffer from it is also part of the research. Due to their size and complexity, conventional genetic analyses only study 10% of the ABCA4 gene, which still holds many secrets.A whole world in which we want to shed light on the prognosis of this pathology and the path to new treatments since having in-depth knowledge about the causal gene is essential for designing and applying gene therapies in the near future.
Working together to get further
This motivation that drives the IMO Foundation also moves the patients and families affected, who we wanted to be involve as cornerstones of the expedition.This is the result of their ideas, proposals and hopes, expressed during a brainstorming workshop they participated in to help the project reach as many people as possible.
We are looking for more people for this expectation which has no limit when it comes to expectations and passengers! Will you join us?
The IMO Foundation
The IMO Foundation was created in 2010 to promote new ways to improve vision and this improve quality of the life for those affected.With this in mind, it works in three main areas: promoting care for groups at ophthalmological and social risk through prevention and early diagnosis campaigns; encouraging scientific collaboration and the training of new generations of professionals through teaching and pioneeringly combining the work of ophthalmologists and geneticists in research projects.
In terms of this last action, the IMO has channelled more than 20 years of experience in clinical trials and promoted the development of genetic studies.In addition to the imminent research into gene ABCA4, IMO's molecular biology laboratory is working on other projects to discover new genes involved in retinal dystrophies.