BeNeXT project: Biomarker enhanced diagnostic and prognostic tools for rare disorders – using X-chromosome alterations in Turner syndrome as a model

Rare diseases (RD) affect around 500 million people globally but are often neglected due to their low prevalence. Diagnosis is frequently delayed or inaccurate, particularly in non-European populations, resulting in poor prognosis and reduced quality of life. The BeNeXT project, launched in September 2024 and funded by the Spanish Ministerio de Ciencia e Innovación (Proyectos de I+D de Generación de Conocimiento), addresses this issue by focusing on Turner syndrome (TS), a rare chromosomal disorder that affects only females. BeNeXT employs a multi-omic approach, integrating phenomics, genomics, and machine learning (ML) on large, diverse samples to decipher complex genotype-phenotype relationships in TS. By analyzing voice, facial, and body biomarkers alongside genomic data, the project aims to develop robust ML models for early TS diagnosis and prognosis. With a focus on underrepresented populations, particularly admixed Latin American groups, BeNeXT seeks to create cost-effective, inclusive tools that improve clinical outcomes and reduce health disparities in RD diagnosis