Treatments for erythropoietic protoporphyrria

We collaborate with clinical researchers (and patients) at the Triemlispital on erythropoietic protoporphyria (EPP), a rare disease which is caused by a polymorphism in one allele of the ferrochelatase gene.

In this project we are attempting to deliver splice-switching oligonucleotides to bone marrow erythrocytes.

Our lab is active across the whole project, from assay development, small-scale screening, design and synthesis of oligonucleotide conjugates, to testing in patient-derived models of disease including CRISPR-Cas9-generated cells and genetically-modified mice (external page Dis Model Mech. 2017). 

Modulation of splicing is proving to be one of the most important application of oligonucleotide drugs, especially for the correction of genetic diseases.