Genomics and Bioinformatics
Overview
The Genomics and Bioinformatics Group, based at CIMUS (Universidade de Santiago de Compostela) and led by Dr. Ángel Carracedo, is a multidisciplinary research unit focused on advancing precision medicine through the integration of genomics, bioinformatics, and translational approaches.
The group addresses the genetic basis of complex diseases, with a strong emphasis on neurodevelopmental disorders, combining phenotypic characterization, large-scale genomic analyses (including GWAS and polygenic risk scores), advanced computational methods, genome editing technologies, and functional modelling systems.
It is internationally recognized for its contributions to the genetic dissection of complex traits and neurodevelopmental disorders, as well as for the development of advanced genomic and bioinformatic methodologies. The group is highly active in large-scale collaborative projects and international consortia, contributing to cutting-edge research published in leading scientific journals.
Areas of Interest (present and future)
- Genetic architecture of neurodevelopmental and complex disorders.
- Genome editing and advanced therapies (gene and cell therapy).
- Complex disease modelling in cellular systems and organoids.
- Multi-omics integration and systems biology.
- Genome-wide association studies (GWAS) and polygenic risk scores (PRS).
- Functional genomics and interpretation of rare and common variants.
- Deep phenotyping and clinical stratification.
- Artificial intelligence and machine learning in genomic medicine.
- Translational genomics and implementation in healthcare systems.
Future directions focus on integrating multi-layered genomic data with predictive models, improving cross-population transferability of genomic findings, and accelerating the translation of genomic discoveries into clinical applications.
Selected Results
Research Lines
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
Members
