Riccardo picture

Riccardo Sangermano (Ocular Genomics Institute, Massachusetts Eye and Ear, Boston, USA) has been invited by Christina Zeitz to hold a talk on Friday 9th December, 2.30 PM, in the conference room of the UCL, 13 Rue Moreau.

This talk will be on "Investigating the missing heritability in inherited retinal diseases".

Riccardo's current research is focused on the identification and characterization of oligogenic traits in in vivo models of disease. During his PhD, he focused on discovery non-coding deep-intronic variants in genetically unexplained ABCA4-disease patients. That was achieved by 1) targeted ABCA4 locus sequencing, 2) minigene-based splice assays 3) patient-specific iPSC-derived photoreceptor progenitor cells, and 4) retrospective studies in unsolved cohorts. Some of the newly discovered culprit variants were targets for ASO-based molecular therapies.