Transposable Elements in development and disease

Inicio Investigación Grupos de Investigación Transposable Elements in development and disease
Dra. Sara R. Heras

Principal Investigator

Scientific areas of interest

Nearly half of the human genome is made of Transposable Elements (TEs) and, although the vast majority of them are unable to mobilize, a significant proportion is transcribed especially in embryonic development and in certain pathologies. While the mobility of TEs is generally considered detrimental to the host, their accumulation in the genome provides a source of genetic material that has co-opted during evolution to benefit various cellular functions, including those related to embryogenesis. In my lab we intend to dissect what are the functions of TE-derived RNAs, especially endogenous retroviruses that are transcribed during early embryogenesis in a stage-specific manner, and the impact their dysregulation has on different pathologies.

Lines of research

  • Identification of new functions of endogenous retroviruses during development using zebrafish as a model.
  • Role of primate-specific non-coding genome, including miRNAS and TEs, during embryonic development and developmental pathologies as 22q11 deletion syndrome using genome-edited hESCs.
  • Analysis of the IFN response activation mediated by TEs in rare diseases and age-associated diseases.


  • Ministerio de Educación, Ciencia y Universidades.
  • Ministerio de Ciencia e Innovación.
  • Consejería de Transformación Económica, Industria, Conocimiento y Universidades.
  • Universidad de Granada.
  • Laboratorio miembro de la Plataforma andaluza de biomodelos y recursos de edición genómica “Andalucia-Biotec Salud”
  • Aula de Estudios del Síndrome de Deleción 22q11.2.

Technology platforms

    • Gene silencing by genome editing (CRISPR/Cas9 system).
    • Regulation of gene expression by CRISPR-Cas13d, CRISPRa and CRISPRi.
    • Omics analysis of DNA, RNA and protein using state-of-the-art technologies.
    • Functional and Bioinformatics analysis of transposable elements (annotation, identification of genomic insertions, differential expression analysis).
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