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Creation of a shared US – Italy database for a fast and effective selection of candidates for emerging therapies

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Prof. Michael Gorin (Chief of the Retinal Disorder and Ophthalmic Genetics Division, Department of Ophthalmology at David Geffen School of Medicine, UCLA, and Jules Stein Eye Institute, Los Angeles, USA).

Prof. Emiliano Giardina (Professor at Tor Vergata University of Rome and Director of the Laboratory of Genomic Medicine, ULDM, Santa Lucia Foundation, Rome, Italy).


Inherited Retinal Diseases (IRDs) and Age-related Macular Degeneration (AMD) are ocular pathologies that are correlated to the patients’ genome, more strictly for the first category of disorders and less for the latter, in which environmental factors may also play an important role.

In the last decades, researchers have identified many gene mutations or polymorphisms responsible for, or correlated to, given pathological phenotypes, and many more are still to be uncovered. The growing knowledge on the molecular mechanisms underlying such disorders and correlated to “defects” in the DNA allows for novel therapeutic strategies that act directly on the molecular path that leads to the onset of a given pathology, making treatment an option that was thought impossible until just a few years ago.

The correlations between genetic mutations and phenotype are not always unambiguous, as gene expression mechanisms and epigenetics (which means interaction among two or more genes) often play an important role as well. It is important to remind that different pathologies can be the result of different types of mutations that can occur on the same gene; on the other hand, a same pathology can result from the mutation of only one of different genes. For this reason, it is of primary importance to know what is the genetic defect underlying a given pathological phenotype, since for the same kind of disorder the availability of a treatment may depend on the type of genetic defect existing in the patient.

The creation of an international database sharing data from US and Italian patients would enable scientists to identify optimal candidates for emerging, state-of-the-art therapies that can potentially fulfill still unmet clinical needs, with particular regard to gene therapy, stem cells applications, optogenetics and optopharmacology, that appear to be the most promising methodologies for the treatment of eye pathologies that arise from genetic defects.

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