Project: PERsonalised medicine for SAIDs

Acronym	PerSAIDs (Reference Number: ERAPERMED2021-262)
Duration	01/05/2022 - 01/05/2025
Project Topic	Systemic Autoinflammatory Diseases (SAID) are a growing number of rare or ultra-rare (1 case /1 M) both monogenic and multifactorial conditions secondary to deregulation of mechanisms controlling innate immune responses and characterized by sterile inflammation. For specific monogenic SAID personalized medicine (PM) is already an established reality. However, there are evidences suggesting that also other SAIDs, 40-60%, where molecular analysis is unable to provide diagnostic confirmation, could benefit from personalized approaches. The present proposal, leveraging from the INSAID project (EJP on Rare Diseases), will link the larger SAID registries and repositories in Europe. As classic deep learning methodologies are not easily applicable to rare diseases, chiefly due to the limited sample size, we will apply different modelling approaches to maximize the use of existing repositories and to develop specific AI strategies able to make the most out of high dimensional set of data on small datasets. We will analyse available data and produce new omics exploiting biosamples from the repositories. We will generate standardized protocols and common bioinformatics pipelines for data management and analysis, to simplify reuse of data in compliance with FAIR principles and GDPR. Our AI solutions will be tested in an exploratory clinical study. Finally, we will develop appropriate tools to decode the disease complexity in clinical practice. AI applications will improve SAID classification, diagnosis and prognosis, and support the development of novel therapies. Our ELSI Working Group, involving legal and ethical stakeholders and patients’ associations, will address ethical, legal and social aspects arising during the project. In a scenario where we reach 7.3 years to diagnosis and a patient waits for 2 years before undergoing genetic testing, an innovative AI approach could really impact on patients’ quality of life, dramatically transforming the patient journey.
Network	ERA PerMed
Call	4th Joint Transnational Call for Proposals (2021)

Project partner

Number	Name	Role	Country
1	IRCCS Istituto Giannina Gaslini	Coordinator	Italy
2	Fondazione Istituto Italiano di Tecnologia (IIT)	Partner	Italy
3	Westfaelische wilhelms-universitaet muenster	Partner	Germany
4	AIT austrian institute of technology gmbh	Partner	Austria
5	Fundacio clinic per a la recerca biomedica (FCRB)	Partner	Spain
6	Hacettepe University Faculty of Medicine	Partner	Türkiye