Wissinger Lab

Molecular Genetics Laboratory

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Elena Buena Atienza

SurnameBuena Atienza
First nameElena
Position and TitlePhD student, M.Sc.

Business address

Molecular Genetics Laboratory
Institute for Ophthalmic Research
Centre for Ophthalmology,
University of Tübingen
Elfriede-Aulhorn-Strasse 7
D-72076 Tübingen,
Germany

Academic Education

Year Degree University Field of study
Since 09/2013 PhD student,
Early Stage Researcher (EyeTN)
Molecular Genetics Laboratory, Institute of Ophthalmic Research, Tübingen  
06/2013 MSc in Molecular Biology and Biomedicine University of Cantabria and University of the Basque Country Molecular Biology and Biomedicine
07/2012 Licenciatura in Biotechnology University of León Biotechnology

Project descriptions

EyeTN is a Marie Curie Initial Training Network that entails a unique research framework focused on retinal degeneration. Comprising different work packages with high synergy among them, EyeTN includes integrative retinal dystrophy transcriptomics as a topic of great interest. Capillary-based Sanger sequencing and massive parallel sequencing of known retinal dystrophy and retinal degeneration (RD) genes have revealed genetic defects in approximately 50% of individuals with retinitis pigmentosa (RP) and allied inherited RDs.

Both these studies and those provided by next-generation sequencing (NGS) of RD probands are generally focused on protein-coding elements. There is accumulating evidence that up to 25% of the genetic defects mainly act on the mRNA. Many synonymous and non-synonymous variants in exons may influence splicing and non-coding variants have only been started to be identified. In this project, a fingerprint shared among a fraction of damaging missense substitutions in rhodopsin is pursued to be recognized by alterations of the global transcriptome in human cells. Additionally, we intend to comprehensively analyse the effects of OPN1LW and OPN1MW cone opsin genes exonic variants on splicing.