GENIE

Genetics workup for Inborn Errors of Immunity

GENIE aims to streamline and improve the diagnostic success rate of inborn errors of immunity (IEI). The project integrates genomic data from patients with IEI, many of whom carry variants of uncertain significance, and applies advanced sequencing and analytical approaches to improve the identification of disease-causing variants. A multidisciplinary team of clinicians, geneticists, and immunologists will work together to interpret findings, supported by newly developed local pipelines for whole-exome and whole-genome sequencing analysis.

By establishing this integrated platform, GENIE will increase diagnostic yield, accelerate time to diagnosis, and strengthen national capacity for IEI diagnosis. In parallel, it will contribute high-quality data to the GIMM Biobank, supporting future research in the field. This project is directly supported by researchers from Vall D’Hebron Research Institute in Barcelona.

PI: Susana Lopes da Silva, MD, PhD (ULS Santa Maria, GIMM, FMUL)