Current Research Areas of Focus

The focus of GGC’s Division of Research is human disabilities, including rare genetic diseases, birth defects, and metabolic disorders. Our goal is to better define the causes of these disorders and to develop strategies for treatment and prevention. GGC’s Research Division is working closely with Center’s Diagnostic and Clinical Divisions as well as the Clemson Center for Human Genetics towards these goals. Supported by both private and public grants, the Division also maintains a strong program in basic science research that continues to uncover new information about genetic disorders.

Our Research Faculty

GGC’s Research Division is led by Dr. Richard Steet (Director of Research and Head of the JC Self Research Institute) who is joined by Dr. Heather Flanagan-Steet (Director of Functional Studies). For more information about our ongoing work, please visit the research projects pages for our faculty members: 

• Richard Steet, Ph.D. (Director of Research) – pathogenesis of lysosomal storage disorders and CDGs, modifiers of disease progression in CDGs, development and evaluation of novel therapies for lysosomal storage disorders, functional studies of variants of uncertain significance
  
• Heather Flanagan-Steet, Ph.D. (Director of Functional Studies) – zebrafish models for lysosomal storage disorders and CDGs, role of extracellular cathepsin proteases and altered cell signaling during pathogenic tissue development, functional evaluation of variants of uncertain significance 

Active Research at GGC

We are currently pursuing a broad range of research projects related to genetic disorders. These projects, driven by our faculty members and their research teams, focus on defining disease mechanisms using cell- and animal-based systems, developing new technologies for the diagnosis of genetic disorders and functionally characterizing genetic variants. 

Our current areas of focus are listed below. Follow the links to learn about these areas of research and how GGC scientists are working together to improve the quality of life for patients with genetic diseases. 

• Lysosomal Storage Disorders 
  
• Congenital Disorders of Glycosylation 
  
• Functional Studies

At the Greenwood Genetic Center, we utilize cutting-edge technologies along with cell- and animal-based model systems to assist clinicians in helping both the patient and their families better understand the cause of the disorder and unraveling the complex pathogenesis of genetic diseases. The Research Division is home to the state-of-the-art Hazel and Bill Allin Aquaculture Facility that houses nearly ten thousand zebrafish being used to model and study genetic disorders. This versatile vertebrate animal system (the first model organism at GGC) is also being leveraged to investigate whether specific variants in the genome are disease causing.

Our Instruments

The Research Division is also equipped with powerful instrumentation for imaging, metabolic profiling, cell biology and biochemistry that allows us to stay at the forefront of research on genetic disorders. Some of this instrumentation is outlined below:  

• Olympus FV1300 Confocal Microscope: This laser-scanning microscope combines high-resolution optical imaging with variable depth selection to image cells and tissues to allow the visualization of structures in these samples that would not be possible with traditional microscopy techniques.  
  
• CytoFlex Cell Scanner: A cell scanner that detects antigens on the surface of cells and determines their abundance; used to determine the expression of different proteins in sorted cell populations.  
  
• BioTek CytationTM Cell Imaging Platform: This cell imaging plate reader combines automated digital microscopy with multi-mode microplate capability to allow phenotypic analysis of cells and quantitative data to be obtained from a single experiment. 

Collaborations

The GGC Research Division is actively engaged in numerous collaborations with academic laboratories and pharmaceutical companies to accelerate our understanding of genetic disorders and the development of treatments.  

Neural Tube Defects Prevention Program

Learn more about GGC’s ongoing efforts to prevent birth defects of the brain and spine through the use of folic acid during pregnancy here.