Klinisk institutt 1

Midtveisevaluering - Hassan Elsaid

Midtveisevaluering for ph.d.-graden ved Universitetet i Bergen for kandidat Hassan Elsaid

Hassan Elsaid er tilknyttet Klinisk institutt 1. Veiledere er Janka Babickova, Hans Peter Marti og Maximilian Krause.


Targeting renal fibrosis in Fabry nephropathy through generating disease model in zebrafish


Fabry disease is an X-linked genetic disease that result in dysfunctionality of alpha galactosidase A enzyme (gla). Among other organs, Fabry disease affects the kidney and eventually causes end stage renal disease.

We aim to generate and characterise gla mutant zebrafish. The mutant fish line will be used as a Fabry disease model to screen novel drugs in vivo.

We have already succeeded in measuring the gla enzyme activity in the wild type zebrafish, which is the first to be reported. Moreover, GenScript® Company have created a polyclonal antibody using our suggested peptide sequence to detect the gla protein in the brain and the heart of adult wild type fish.

In order to study the effect of the gla enzyme silencing, we have also succeeded in generating a frameshift mutation in gla gene of zebrafish (currently, we have a genetic line at F1 generation of gla+/-). This mutation has resulted in a premature stop codon. Additionally, we have the tools to dissect and section the whole kidney to directly investigate the morphological and histopathological consequences of the inactive gla enzyme.