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In page Casa Sollievo della Sofferenza:
"Major activities of this research unit include-discovery of disease related genes, study of genomic signatures in disease pathology, analysis of deregulated pathyways in complex pathologies and functional studies of mutations in genes associated with tumour and other complex diseases.[1] Dr. Giuseppe Merla, a scientist from IRCCS Casa Sollievo della Sofferenza Medical Genetics Unit led the discovery of a novel rare genetic syndrome- IDDCA (intellectual development disorder with cardiac arrhythmia) along with collaborators from America, the Netherlands, Brazil and Switzerland.[2] In 2018, Oxford BioDynamics had signed a deal with Casa Sollievo della Sofferenza to develop a novel biomarker assay for Autism Spectrum Disorder (ASD).[3][4]
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