Genetic Research
Research on genetic disorders is essential to diagnose, understand and treat these conditions. The focus of GGC’s Division of Research is human
disabilities, including birth defects, autism, intellectual disability and metabolic disorders. Our goal is to better define the causes of
these disabilities and to develop strategies for treatment and prevention. GGC’s Research Division is working closely with 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 active collaborations
with pharmaceutical companies are fueling the development and testing of new therapies.
GGC’s Research Division is lead by Dr. Richard Steet (Director of Research and Head of the JC Self Research Institute) who is joined by faculty
members, Dr. Heather Flanagan-Steet (Director of Functional Studies) and Dr. Luigi Boccuto (Assistant Research Scientist). The Research Division
is also home to several senior scholars, including our former Director,
Dr. Charles Schwartz.
For more information about our ongoing work, please visit the research projects pages (under construction) for our faculty members:
- Richard Steet, Ph.D. (Director of Research) - pathogenesis of lysosomal storage disorders and CDGs, chemical
glycobiology tools to identify sensitive glycoproteins, modifiers of disease progression in CDGs, development and evaluation of novel therapies
for lysosomal storage disorders
- 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
- Luigi Boccuto, M.D. (Assistant Research Scientist) – metabolic profiling of autism, novel therapeutic
approaches for autism, Phelan-McDermid syndrome
Research Areas 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, elucidating the metabolic underpinnings of autism,
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 (under construction) 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.
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 more than 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. The Research
Division is 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. 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.
OmniLog Plate Reader: This high-throughput colorimetric reader is used for metabolic profiling of cells and provides
an unbiased assessment of the metabolic state of the cell and how it utilizes different sources to generate energy.
Seahorse XF Analyzer: This instrument measures oxygen consumption and extracellular acidification rates in live cells
in a multi-well plate, allowing investigation of cellular functions such as glycolysis and mitochondrial respiration.
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.
Port-a-Patch® set up: This instrument is used for patch clamp experiments and enables simplified access to cellular electrophysiology
measurements on cells in suspension by the use of a planar glass surface with a micron diameter hole.
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.
Birth Defects Prevention Program
Learn more about GGC’s ongoing efforts to prevent birth defects in babies through the use of folic acid during pregnancy
here.
