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.