You are here: vision-research.eu » People » Young Researcher » Bujakowska, Kinga
I am involved in a project to elucidate the pathological mechanism of one of the forms of retinal dystrophy, retinitis pigmentosa 11 (RP11), which leads to a progressive loss of vision and eventually to blindness. RP11 is a genetic disease transmitted in a dominant fashion, caused by mutations in a ubiquitously expressed splicing factor gene PRPF31 (Pre-mRNA Processing Factor 31). A unique feature present in RP11 families is partial penetrance of disease symptoms in obligate mutation carriers
![]() |
Département de Génétique
17 rue Moreau
75012 Paris
France
Phone +33153462544
CV of Kinga Bujakowska [pdf]