Genomics and Bioinformatics
The Genomic Medicine Group (GMX), identified within CIMUS as the "Genomics and Bioinformatics Group", has evolved since its early years toward a stronger focus on biomedical and clinical genetics. Although the group has historically been a benchmark in forensic genetics—pioneering genetic identification methodologies and contributing to their development—its current research activity is primarily centred on studying complex diseases and applying genomics to personalised medicine.
The group has established itself as a reference in Clinical Genetics, actively participating in the genetic characterization of rare diseases, the study of neurodevelopmental disorders, and the development of applied genomic tools. This shift in focus is reflected in the growth of strategic projects in the biomedical field and the publication of numerous articles in high-impact journals such as Nature Genetics, Science, and Nature.
Resultados seleccionados
Liñas de investigación
Line 1: Genetic Architecture of Neurodevelopmental and Complex Disorders
Identification and characterization of rare (de novo, postzygotic) and common variants
GWAS andTWAS analyses
Integration of genomic data with transcriptomic and regulatory information
Discovering the role of the 3D (three-dimensional) genome in ASD etiology.
Line 2: Functional Genomics and Disease Modelling
Genome editing (e.g. CRISPR-based approaches); CAR therapy development and innovation.
Generation of cellular and human organoid models from genomic data derived from patients affected with rare or complex diseases/disorders.
Functional validation of genomic variants
High-throughput drug screening and new advanced methodologies for personalized medicine drug discovery.
Line 3: Pharmacogenomics and Drug Discovery
Genetic variability in individual drug response and adverse drug reactions
Pharmacogenomic biomarker discovery for patient stratification and response prediction
Prevention, prediction and analytical quality in pharmacogenetics
Integrative multi-omic approaches for biomarker discovery and therapeutic target validation
Clinical implementation of molecular diagnostic and precision medicine strategies
Line 4: Neurodevelopment, Clinical Heterogeneity and Precision Psychiatry
Deep phenotyping (clinical, cognitive, sensory, behavioural) across neurodevelopmental conditions (ASD, ADHD) and OCD
Characterisation of clinical heterogeneity and transdiagnostic profiles
Analysis of sex / gender differences and camouflaging in neurodevelopmental disorders
Integration of phenotypic, neurocognitive and genomic data
Application of machine learning to predict clinical outcomes, treatment response, and to detect comorbidities and high-risk profiles
Line 5: Computational Genomics and Bioinformatics Development
Development of analytical pipelines for large-scale genomic data
Polygenic risk modelling and cross-population evaluation
Population genetics and ancestry analysis
Advanced statistical modelling and data integration
Membros
