Rare congenital diseases are in urgent need of therapies. A simple animal such as the nematode Caenorhabditis elegans (C. elegans) may provide insights into the investigation of these diseases. Because of its defined genome and because many genes are highly conserved between C. elegans and humans, it is possible to investigate the underlying pathways of these diseases. In this study, we characterize two rare congenital diseases: SRD5A3-CDG, a congenital disorder of glycosylation type 1q and Cori disease, a glycogen storage disease type III. Current literature mainly shows clinical data concerning these diseases. SRD5A3-CDG disease is caused by a mutation in steroid 5 alpha-reductase 3 gene (SRD5A3), leading to significant psychomotor, cognitive and visual impairments. C. elegans has an orthologue of SRD5A3 called B0024.13 along with deletion (B0024.13(deletion)) and point mutation (B0024.13(W6X)) resulting in viable animals suitable for experimentation. B0024.13 C. elegans strains show significant motor impairments, neurodegeneration as well as neurodevelopmental delay. Cori disease is caused by a mutation in AGL gene coding for glycogen debranching enzyme which is involved in the glycogenolysis pathway. Clinically, Cori patients have significant hyperplasia of the liver, hypoglycemia, mental retardation and myopathy. The C. elegans orthologue of the Human AGL gene is
agl-1. Our work with whole gene deletion (
agl-1 (deletion)) and point mutation strains (
agl-1 (W1044X),
agl-1(S1444R)) showed significant movement impairments, neurodegeneration, and interestingly, a glycogen accumulation phenotype which make them suitable for drug screening experiments. An update of our work will be presented.