Greenwood Genetic Center, Clemson share important genetic research news see more
Genetic networks define an individual’s unique characteristics that – coupled with lifestyle habits and other environmental factors – determine susceptibility to cancers, hypertension, high cholesterol, arthritis, diabetes, Alzheimer’s disease and numerous other ailments. The National Institutes of Health (NIH) has tasked Clemson University with unlocking these genetic codes through a new $10.6 million grant to establish the Center of Biomedical Research Excellence (COBRE) in Human Genetics in collaboration with the Greenwood Genetic Center (GGC).
The award funds an initial five-year phase of a COBRE, which can continue for 15 years, positioning the Clemson-GGC collaboration as a global leader in the scientific advancement of human genetics. The NIH COBRE program provides a long-term investment in the advancement of medical research around a central theme. This is NIH’s first COBRE specifically focused on human genetics.
Trudy Mackay, the Self Family Endowed Chair of Human Genetics, will lead the COBRE in Human Genetics along with Robert Anholt, provost’s distinguished professor of genetics and biochemistry, and Richard Steet, director of research at Greenwood Genetic Center (GGC).L-R: Robert Anholt, Trudy Mackay, Richard Steet
The Greenwood Genetic Center provides clinical services to more than 5,000 patients annually, and diagnostic laboratory testing, educational programs and research in medical genetics. Clemson’s Center for Human Genetics has collaborated closely with GGC since opening in 2018.
“Merging the expertise of Clemson’s genome science with the patient-driven focus of the Greenwood Genetic Center is very powerful,” Steet said. “The theme of this COBRE is comprehensive – covering common disorders like cardiovascular disease, cancer, neurodegenerative diseases as well as very rare genetic disorders. We take a lot of pride in that breadth, as it gives our collaborations and the efforts of this COBRE room to grow.”
At the heart of the COBRE in Human Genetics is a robust mentoring platform for early-career faculty. Leading scientists at several of the nation’s premier laboratories will serve as project mentors, including St. Jude Children’s Research Hospital, the National Cancer Institute, Duke University and the Center for Comparative Genomics and Bioinformatics at The Pennsylvania State University.
Initially, the COBRE in Human Genetics will feature four core research projects and numerous pilot projects. The following investigators lead the four core projects:
Andrei Alexandrov, assistant professor of genetics and biochemistry at Clemson, will analyze human nuclear long non-coding RNAs to identify potential targets for new treatments for cancer and viral diseases. A former scientist at Yale University, Alexandrov developed an ultra-high throughput method that enables the discovery of genes involved in human RNA surveillance.
Heather Flanagan-Steet, director of functional studies at the Greenwood Genetic Center, will study genetic mutations that can cause neurological and cognitive impairment, skeletal abnormalities and even early infant death. Her work on rare diseases largely involves the generation of zebrafish models to investigate gene function and disease pathogenesis. She pioneered the use of zebrafish to model rare inherited diseases.
Miriam Konkel, assistant professor of genetics and biochemistry at Clemson, will work to understand why and how transposable elements, sometimes called “jumping genes,” can move around the human genome and alter genetic expression. The movement of transposable elements may contribute to neurodegenerative diseases like Alzheimer’s.
Fabio Morgante, assistant professor of genetics and biochemistry at Clemson, will analyze genetic data from 500,000 people as part of a project to develop phenotypic models that can predict cardiovascular disease. His models will take into account ancestry, ethnicity and environmental factors that can affect disease susceptibility.
The COBRE in Human Genetics will support numerous pilot projects related to human genetics and expand its research as the COBRE progresses and attracts additional investigators.
The team is planning an annual symposium and a yearly retreat for the COBRE in Human Genetics participants to share knowledge and ideas. Already, renowned scientists worldwide, including members of the National Academy of Sciences, are participating in a monthly lecture series organized by the Center for Human Genetics.
“GGC is honored to be part of this first-ever NIH COBRE in the field of human genetics,” said Steve Skinner, MD, GGC Director. “By combining the Greenwood Genetic Center’s 47 years of expertise in providing quality medical genetics services with the research talent and computational power of the Clemson Center for Human Genetics, patients and families impacted by both common and rare genetic diagnoses will reap the benefits.”
“This grant truly raises the profile of both Clemson University and the Greenwood Genetic Center, and I am proud that our collaboration has the potential to make a difference for so many people. It is powerful to think of how many lives might be saved by learning more about the genetics behind some of these devastating diseases,” said Clemson University President Jim Clements.
Research reported in this publication is supported by the National Institute of General Medical Sciences of the National Institutes of Health under Award Number P20GM139769. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.
Major grant awarded to Greenwood Genetic Center see more
The National MPS Society has awarded a $100,000 grant to the Greenwood Genetic Center (GGC). Richard Steet, PhD, Director of Research at GGC, is the lead investigator on the two-year project aimed at improving the diagnosis and hastening treatment for patients with these rare disorders.
Mucopolysaccharidoses (MPS) and related disorders, as a group, affect approximately 1 in 25,000 individuals. The MPS Society provides support resources for families as well as funding for research into this group of disorders which can affect the health, development, quality of life and lifespan of affected individuals. GGC has a long-standing interest in MPS disorders including providing clinical care, diagnostic testing, and research for many of these rare conditions.
Several of these conditions have been added to newborn screening, also known as the heel prick test, that screens all infants at birth for a variety of treatable genetic disorders. The Biochemical Diagnostic Laboratory at GGC is directly involved with secondary testing of newborns that receive a positive screening result.
According to Steet, these newborn screening efforts are identifying new changes within genes related to MPS disorders that aren’t always easily interpreted, leading to uncertainty in the diagnosis.
“Some of these novel changes may be disease-causing, while others are not,” said Steet. “Not knowing the significance of the gene changes puts patients and families in a state of limbo, uncertain as to whether they should start therapy.”
As more states, including South Carolina, are starting to screen for MPS disorders at birth, Steet and his colleagues in the Research and Diagnostic Divisions at GGC are developing cell- and zebrafish-based models to determine which of these gene changes are false positives and which are true mutations.
“Once the significance of these changes is known, then labs around the world who are running these tests can report their results with confidence, families with false positives can be reassured, and those with true mutations can start life-altering treatment without further delay,” said Steet.
“The National MPS Society is honored to support Dr. Steet’s research in the development of newborn screening assays,” said Terri Klein, President and CEO of the National MPS Society. “GGC produces groundbreaking research that is key to unlocking the understanding of these rare diseases. MPS is a life-limiting disease, and children lose their battle early. Moving science forward will help change the outcomes of children diagnosed now and in the future.”
About Greenwood Genetic Center
The Greenwood Genetic Center (GGC), founded in 1974, is a nonprofit organization advancing the field of medical genetics and caring for families impacted by genetic disease and birth defects. At its home campus in Greenwood, South Carolina, a talented team of physicians and scientists provides clinical genetic services, diagnostic laboratory testing, educational programs and resources, and research in the field of medical genetics. GGC’s faculty and staff are committed to the goal of developing preventive and curative therapies for the individuals and families they serve. GGC extends its reach as a resource to all residents of South Carolina with satellite offices in Charleston, Columbia, Florence, and Greenville. The GGC Foundation provides philanthropic financial support for the mission of the Center. For more information about GGC or the GGC Foundation please visit www.ggc.org.
About the MPS Society
The National MPS Society exists to cure, support, and advocate for MPS and ML. Their mission serves individuals, families, and friends affected by Mucopolysaccharidoses and Mucolipidosis through supporting research, supporting families, and increasing public and professional awareness. For more information on MPS and ML, please visit www.mpssociety.org.
The Greenwood Genetic Center has named Richard Steet, PhD as Director of Research see more
GREENWOOD, South Carolina – The Greenwood Genetic Center has named Richard Steet, PhD as Director of Research and Head of the JC Self Research Institute. He joins the GGC faculty from the University of Georgia where he was Professor of Biochemistry and Molecular Biology in the University’s Complex Carbohydrate Research Center.
Steet’s research program, which is funded by the NIH and private foundations, is focused on defining disease mechanisms for two different classes of inherited diseases - lysosomal storage disorders and congenital disorders of glycosylation. Dr. Steet is also a dedicated advocate of rare disease research and serves on the scientific advisory boards for the National MPS Society and ISMRD, two organizations that provide family support and advance research.
“I am thrilled to become part of the world-renowned Greenwood Genetic Center, and I look forward to collaborating with their clinical and diagnostic divisions to enhance our understanding of the genetic basis for birth defects and disabilities,” said Steet.
Steet’s additional goals for the Center’s Research Division include integrating the Center’s strengths in basic science research with clinical and translational studies. He also plans to enhance partnerships with pharmaceutical companies that can drive therapeutic development for genetic disorders.
Steet and Heather Flanagan-Steet, PhD, who also joins GGC’s faculty as Director of Functional Studies and Director of the Center’s new Aquaculture Facility, study both cell and animal-based models of human disease. Their work uses a combination of chemical, molecular, and developmental approaches to unravel the complexity of these disorders and explore new ways to treat them. Their efforts will dovetail in many ways with the mission of the Clemson Center for Human Genetics, located adjacent to the JC Self Research Institute.
The Steets have been working with GGC over the past several months to set up a new aquaculture facility at the Center that, once fully operational, will house over 10,000 zebrafish. The facility, along with a new confocal microscope, which will arrive at GGC this fall, will allow in depth characterization of zebrafish models for several human genetic diseases. Their zebrafish and cell models will be further leveraged to study challenging cases seen in the clinic and diagnostic labs.
“Zebrafish, who share approximately 70% of their genes with humans, are a powerful model organism for genetic disorders,” shared Flanagan-Steet. “Since zebrafish embryos are clear, we can observe their development from the very beginning and learn how genetic factors lead to the disease-associated features that we see in patients.”
“GGC is fortunate to have the expertise of both Dr. Steet and Dr. Flanagan-Steet, and we are excited as our research program expands to include our first animal model,” said Steve Skinner, MD, Director of GGC. “The potential of this new area of study is tremendous, and what we learn through their lab will undoubtedly move us closer to developing effective treatments for patients with rare genetic disorders.”
Steet assumes the directorship from Charles Schwartz, PhD who joined GGC in 1985 as the Director of the Center’s Molecular Laboratory, and shifted his focus to lead research initiatives in 1996. Schwartz earned an international reputation in the area of X-linked intellectual disability. He remains on GGC faculty as a Senior Research Scientist.