The Genetics and Genomics research area is focused on rare and complex diseases of genetic component, by developing investigation projects to get their physiopathological, cellular, and and molecular characterization, the development and validation of diagnostic techniques and algorithms and epidemiological studies on cohorts of patients . All of them oriented to the design of new useful tools with a clear clinical application and new therapeutic strategies.

Genetic and rare diseasesGenetic and rare diseases

The main aims are:

• The achievement of new knowledge on the molecular basis underlying rare and complex diseases.

• Translation from biotechnology to diagnosis and prevention of diseases with genetic basis in different medicine specialties, as prenatal diagnosis, reproduction, Paediatrics, Neurology, Cardiology, Ophthalmology and others.

• New therapeutic approaches development based on Pharmacogenetics, and cell and gene therapies.

This area has a transversal character, aiming to provide methodological support and knowledge to other groups and research areas opening new lines for the study of neurological, psychiatric and cardiovascular common diseases, and cancer.

Pharmacogenetics and the identification of genetic factors which contribute to predisposition or evolution to rare and complex diseases are also strategic and transversal, allowing the selection for a more individualized therapy, the so called genomic or personalized medicine.

The Research Group on the "Genetics and Genomics of Rare and Complex Diseases" are focused on genetic, clinical, and epidemiological studies of various hereditary and chromosomal diseases. Validation and implementation of new massive sequencing techniques, arrays, and studies of fetal DNA in liquid biopsy are priority objectives due to their potential for translation to clinical diagnosis, as well as their promise as tools to support experimental the molecular characterization of multiple physiological and pathological processes. These tools allow diagnosis and genetic counseling for genomic malformations and monogenic diseases from preconception through embryonic, fetal, and postnatal stages.

The Research Group on "Genetics and Neoplastic Processes" explores the biology and genetics of these processes, developing methods of early diagnosis and seeking to identify prognostic biomarkers.

The Research Group on Genetic Susceptibility to Disease works to characterize the underlying genetic and epigenetic abnormalities in the origin and development of T-cell lymphoblastic lymphoma, searching for genes that may be used in diagnosis and treatment of psychiatric diseases with a strong hereditary component.

This area has strong interdisciplinary ties, disseminating know-how and effective methodology to all other research groups and areas.

Challenges for the future:

  • Expand knowledge of the epidemiology of rare diseases.
  • Identify new genes/loci involved in hereditary diseases.
  • Refine how chromosomal diseases and genomic disorders are characterized, increasing the spectrum of diagnosable pathologies, improving the sensitivity and specificity of diagnosis so that these pathologies may be prevented through effective genetic counseling.
  • Transfer knowledge of genetic characterization and discover new molecular mechanisms with a view to creating diagnostic algorithms, optimizing patient management and drafting protocols or clinical guidelines for the study of diseases that follow a Mendelian inheritance pattern.
  • Develop and validate the microarray-based comparative genomic hybridization (aCGH) technique. Apply pre- and postnatal genetic diagnosis and investigate its possible application to preimplantational genetic diagnosis.
  • Research and evaluate the importance of intra-tumoral heterogeneity, RNA editing processes, and epigenetic alterations that characterize T-lymphoblastic neoplasms by integrating genomic approaches (exome sequencing, RNA sequencing, and methylome) to improve the diagnosis and prognosis of these conditions and select the most appropriate therapeutic strategies in the context of up-to-date and accurate personalized medicine.
  • Implement next-generation sequencing (NGS) technology, validating its analytical and clinical performance and developing new diagnostic algorithms that may be applied to heterogeneous or complex genetic pathologies.
  • Integrate aspects of basic research (functional genomics and proteomics) with more translatable goals such as developing, validating, and harmonizing diagnostic techniques and searching for therapy targets.
  • Research in different therapeutic approaches: pharmacogenetics, drug therapies, and new therapeutic strategies such as gene edition (CRISPR / Cas9) and iPSC (induced pluripotent stem cell) reprogramming.

Research Groups

  • Genetics and Genomics of Rare and Complex Diseases (link)
  • Genetic Susceptibility to Rare and Complex Diseases (link)