The Greenwood Genetic Center’s (GGC’s) new Director of Research, Richard Steet, PhD, is bringing big changes to the Center. Steet, who joined GGC in August from the University of Georgia, and his longtime collaborator, Heather Flanagan-Steet, PhD, have developed an aquaculture facility at the Center for the study of zebrafish, a model organism for human genetic disorders.
And now Steet has successfully renewed a National Institutes of Health R01 grant from the National Institute of General Medical Sciences which will bring $1.2 million dollars to the Center’s Division of Research over the next four years.
The grant titled “Pathogenic Mechanisms of Lysosomal Disease” allows Steet and colleagues to continue their prolific work in using zebrafish models of a rare lysosomal storage disorder known as mucolipidosis II (MLII). Patients with MLII have coarse facial features, significant skeletal and joint abnormalities, intellectual disability, and a significantly shortened life span.
Steets’ previous work on MLII has identified that enzymes called cathepsins are key to the abnormal cartilage development associated with MLII. This discovery has led to a possible new treatment strategy for patients with MLII that will target the excessive activity of these enzymes outside the cell. Earlier studies in zebrafish have shown that this strategy can rescue many of the features of MLII.
This new round of funding will focus on the role of sugar polymers called GAGs in the disease process. Studies will assess how these polymers regulate the activation and activity of the cathepsins.
“This project highlights the value of using the zebrafish system to study genetic disorders,” said Steet, “Using zebrafish allows us to not only better understand the disease process, but also allows us to identify treatment targets and test those treatments. We look forward to expanding this work at GGC in the coming years.”