The IDEA Network is actively contributing to the HBD project by conducting a pilot project aimed at testing, validating and implementing the platform within the ecosystem of patients who have not yet received a definitive diagnosis.
Great emphasis was placed by the 11 associated IRCCSs on the need to provide an accurate diagnosis and adequate support to patients without a definitive “assessment”. To this end, the Network has initiated programmes for the use of innovative models for the application of telemedicine and state-of-the-art omics technologies.
In this context, a new diagnostic approach has been developed and implemented based on telemedicine, which allows for the collegial multidisciplinary assessment of patients, and on the use of genomic sequencing (sequencing of the genome, exome and transcriptome), together with innovative diagnostic tools, such as the study of methylation profiles.
