Clinical use cases
Three clinical research domains. Seven countries. One federated platform.
The BETTER platform is demonstrated through three paediatric rare disease use cases that span multiple European clinical institutions and require genomic and real world clinical data to uncover insights impossible at any single site.
Paediatric Intellectual Disability
Hospital data • GenPIDDs • ICD-10, HPO, etc.
Scientific Objective
Integrating genomic and phenotypic data from rare disease cohorts across Europe to identify shared pathways causing paediatric intellectual disabilities. Data from different institutions using different Electronic Health Record (EHR) systems will be harmonized through common ontologies.
The use case explores whether variants classified as "Variants of Unknown Significance" (VUS) in isolated datasets become interpretable when analyzed in federated context — enabling reclassification and clinical action.
Lead Institution
SJD — Hospital Sant Joan de Déu
Barcelona, Spain
data types
Clinical records
Genomic data
ICD-10 coded diagnoses
HPO (Human Phenotype Ontology)
Federated Partners
Ospedale dei Bambini Vittore Buzzi, Institute of Molecular Genetics and Genetic Engineering
Projected Outcome
Improved diagnostic yield for rare paediatric genetic conditions, identification of novel disease genes, and reclassification of VUS variants through federated evidence aggregation.
Inherited Retinal Dystrophies (IRDs)
Ophthalmological data across rare disease cohorts • ICD-11, HPO, ORDO
Scientific Objective
Combining clinical and genomic information across rare disease registries and clinical databases to characterize genotype-phenotype correlations for Inherited Retinal Dystrophies (IRDs). Over 280 genes are implicated in IRD, but many patients remain without a molecular diagnosis.
The federated analysis spans ophthalmological centers, genomic labs (WGS, WES, panel sequencing), and patient phenotype registries to identify recurrent genotype-phenotype correlations and identify therapeutic targets.
Lead Institution
IIS LAFE
Valencia, Spain
data types
Genomic data
Clinical records
Retinal imaging
Disease registries
Federated Partners
Hadassah Medical Center
Projected Outcome
Enhanced molecular diagnosis rates, novel therapeutic targets for gene therapy, and improved genotype-phenotype correlations for clinical decision-making.
Autism Spectrum Disorders (ASD)
Hospital Universitari Mútua Terrassa • Terrassa, Spain
Scientific Objective
Predict and prevent self-harm and suicidal behaviour in children and adolescents with ASD, who present a risk up to nine times higher than the general population. Multi-modal data integration — clinical, genomic, metabolic and environmental — will be used to identify predictive risk factors and design personalised AI-driven monitoring strategies.
Lead Institution
Hospital Universitari Mútua Terrassa
Terrassa, Spain
data types
Clinical records
Genomic data
Environmental factors
Federated Partners
Cologne University Hospital, Ospedale dei Bambini Vittore Buzzi
Projected Outcome
Predictive risk models, personalised monitoring protocols, and a contribution to reducing mortality rates in vulnerable paediatric populations.