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Greenwood Genetic Center
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 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.
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Greenwood Genetic Center
SEATTLE, WA – GGC co-founder and senior clinical geneticist, Roger E. Stevenson, MD, has been honored with ‘The ACMG Foundation David L. Rimoin Lifetime Achievement Award in Medical Genetics’ at the college’s annual meeting in Seattle.
 
Stevenson, a native of Neeses, SC, is a 1962 graduate of Furman University and received his MD from Bowman Gray School of Medicine at Wake Forest, where as a medical student, he set up the school’s first chromosome lab and made a groundbreaking discovery about the risk of birth defects in mothers with PKU, a rare inherited metabolic disorder. He proceeded to Johns Hopkins University School of Medicine where he completed a pediatric residency and research fellowship. It was there he studied under some of the giants of the emerging field of medical genetics and was a contemporary of the award’s namesake, Dr. David Rimoin.

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Greenwood Genetic Center
GREENWOOD, SC – Greenwood Diagnostic Laboratories at the Greenwood Genetic Center, in collaboration with London Health Sciences Centre (LHSC), announce the launch of a new diagnostic test focused on disease-specific epigenetic signatures. The test, EpiSign, which is performed on a peripheral blood sample, analyzes DNA methylation patterns of the genome to establish a diagnosis or help resolve variants of uncertain significance (VUS) found through DNA testing.
 
To date, combined efforts have identified unique methylation patterns, known as epigenetic signatures, for 19 genetic disorders including CHARGE syndrome, Cornelia de Lange syndrome, Down syndrome, Kabuki syndrome, Sotos syndrome, Williams syndrome, ATRX syndrome, autosomal dominant cerebellar ataxia with deafness and narcolepsy (ADCADN), BAFopathies (Coffin-Siris syndrome , Nicolaides-Baraitser syndrome, Chr6q25del), Claes-Jensen syndrome, Genitopatellar syndrome, Floating Harbor syndrome, ADNP-related syndrome/Hellsmoortel-VanDerAa syndrome, and Chr7q11.23dup.

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GREENVILLE, SC – The Greenwood Genetic Center (GGC) is pleased to announce it has been selected as one of approximately 20 sites in the United States, Australia, and New Zealand now enrolling patients in a clinical trial for Fragile X syndrome (FXS). The study will include more than 200 male and female individuals ages three through 17. 

FXS is a genetic condition that causes intellectual disability, behavioral and learning challenges, and is also the most common known single gene cause of autism spectrum disorder. 
 
The newly-initiated study, CONNECT-FX (Clinical Study of Cannabidiol (CBD) in Children and Adolescents with Fragile X), is a 14-week randomized, double-blind, placebo-controlled trial to assess the efficacy and safety of an investigational CBD gel (ZYN002) in children with full mutation FXS. CONNECT-FX is evaluating delivery of the drug through the skin as a potential treatment for some common behavioral symptoms associated with FXS.

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Greenwood Genetic Center

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.

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