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Approved research

A study of genes implicated in Leber congenital amaurosis (LCA) and the role of preconception genetic screening

Principal Investigator: Dr Michael Grassi
Approved Research ID: 44316
Approval date: May 29th 2019

Lay summary

Children with LCA are born blind. Even though the disease is rare, it has significant long term healthcare implications. A number of different genes have been implicated in the pathogenesis of LCA. Alleles are different forms of the same gene located on the same place on the chromosome. Comparing the frequency of different alleles in the causation of LCA will give a fair idea as to the mutations responsible. This will help in better screening techniques that can be used in the population, to reduce the incidence and prevalence of the disease, thus resulting in reduced blindness in the overall population. Reduced cases of LCA will mean easing the dependency on the healthcare system resources, even if by very little. We expect the project to last less than 6months, since it will be done insilico, with a simulated computer program.