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 pageDis Model Mech. 2017call_made). 

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