Business address

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

Phone: +49 (0)7071 29-80706

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

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.