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Katharina Rawnsley

Surname Rawnsley
First name Katharina
Position and Title Medical doctoral student, BSc
Project Functional evaluation of CNGB3 variants associated with Achromatopsia for their potential to affect mRNA splicing

Business address

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

Phone: +49 (0)7071 29-80706

E-mail: katharina.rawnsley[at]student.uni-tuebingen.de

Academic Education

Currently Student in Medicine, University of Tübingen, Germany
Master Student in Psychology, University of Tübingen, Germany
10/2015 - 07/2017 Bachelor of Science Psychology, UMIT Tirol - Private University For Health Sciences and Health Technology, Austria
10/2012 - 05/2013 Chemistry and Biochemistry, Ludwig-Maximilians-Universität München, Munich, Germany

Research background and scientific interests

Currently I am a 4th year medical student at the Medical Faculty of the University of Tübingen. Previously I studied Chemistry and Biochemistry and and I hold a bachelor's degree in Psychology.

My medical doctorate project deals with the characterization of variants potentially acting on splicing. Mutations in the CNGB3 gene are the most common cause of Achromatopsia, an autosomal recessive disorder of the cone photoreceptors associated with complete colour blindness, nystagmus and photophobia. Molecular genetic testing of patients sometimes reveals gene alterations that are suspected to lead to faulty splicing of the CNGB3 mRNA. Bioinformatic prediction programs can prioritise such variants for their impact on splicing, but the actual effect on mRNA processing can only be proven by experimental splicing assays. Providing this evidence for the pathogenic effect of splice site and near splice site variants is of great relevance for patients. Confirmation of the missplicing potential of such variants can provide proof for the genetic cause of the disease and represents a criterion for the inclusion of such patients in current clinical natural history studies and gene therapy trials.