GGC’s New Director of Research, Richard Steet, PhD, Receives $1.2 Million NIH Grant Renewal

10.29.18
Yash Gandhi Foundation Supports GGC Research

GREENWOOD, SC  – 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.”

Lucy's Story

When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. Calls were made to Greenwood Genetic Center to confirm her diagnosis and guide her care. Dr. Champaigne and Ami...

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