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.
Selected Results
Research Lines
1. Neurodevelopmental Disorders
- Study of the genetic architecture of Autism Spectrum Disorder (ASD) and other neurodevelopmental disorders.
- Search for the missing heritability of ASD by exploring genetic variability in non-coding regions, postzygotic mutations, splicing variants, and eQTLs. Analysis of missing common variation through GWAS studies.
- Exploration of the interactions between genetic, environmental, and social factors in shaping cognitive and neurodevelopmental differences.
- Analysis of the influence of gender on the manifestation and diagnosis of neurodevelopmental disorders.
- Study of the neurobiological mechanisms that regulate learning, executive functions, and other cognitive functions.
- Development of new bioinformatic methods for analyzing common genetic variation in NDDs through integration of expression data and other omics technologies.
2. Genetics of Mendelian and Complex Diseases
- Participation in national and international initiatives for the genetic characterization of Mendelian diseases.
- Search for the genetic component of complex diseases through GWAS studies and involvement in national and international consortia.
- Determination of genetic risks and early prediction of diseases.
- Identification of genetic variants that affect drug response and implementation of pharmacogenomics tools in clinical practice to improve the safety and effectiveness of medical treatments.
3. Search for New Therapeutic Targets and Advanced Therapies
- Identification and validation of therapeutic targets and development of preclinical drugs.
- Creation of complex in vitro disease models, based on genome editing and cell differentiation, to obtain 2D models and 3D organoids for advanced therapies in rare diseases and cancer.
- Development and implementation of gene therapies based on genome editing, base editors, cell therapies, and antisense oligonucleotide therapies.
4. Pharmacogenomics and Drug Discovery
- This research line focuses on analyzing genetic variability that influences individual responses to pharmacological treatments. The group aims to discover biomarkers associated with both the prevention of adverse drug reactions and the improvement of therapeutic efficacy. Special attention is given to drugs used in the treatment of prevalent, hard-to-manage, and/or high-cost diseases within the national healthcare system, including psychiatric, cardiovascular, and oncological agents. The research has a strong translational orientation, with a direct focus on clinical application through the identification of new therapeutic targets, pharmacological strategies, and the implementation of precision medicine tools to enhance current diagnostic and therapeutic procedures.
5. Development and Implementation of Advanced Omics Technologies
- Integration of next-generation omics methodologies to improve genetic and functional characterization in biomedical research.
- Development of innovative protocols for omics data analysis, ensuring precision, reproducibility, and scalability.
- Transfer and adaptation of these technologies for their application in research projects, facilitating access to cutting-edge tools for the scientific community.
The Genomic Medicine Group also carries out intensive knowledge transfer activities and collaborates closely with other research groups, hospitals, companies, and public institutions. Additionally, it participates in strategic consortia and projects such as CERTERA and IMPaCT-Genomics, consolidating its key role within the R&D&I ecosystem in Galicia.
Members
