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  • sam patrick posted an article
    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).

    Scientists standing in the lab. 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.

  • sam patrick posted an article
    Study shows diagnostic test effective for providing conclusive genetic results see more

    GREENWOOD, SC – The Greenwood Genetic Center (GGC), working with collaborators at Lawson Health Research Institute in Canada and the University of Amsterdam, published a study this month that provides clinical validation of EpiSign, a molecular genomics test that diagnoses rare, heritable neurodevelopmental conditions. GGC has been the sole US laboratory provider of this novel diagnostic test since 2019.

    EpiSign analyzes changes that affect gene expression rather than the gene sequence. Researchers have found that certain genetic disorders display unique genomic patterns, or epigenetic signatures, allowing for a diagnosis through EpiSign when traditional genetic testing has been uninformative.

    The laboratory testing in the US is performed at GGC while the analysis of the results is performed using machine learning at Lawson where the EpiSign Knowledge Database was developed. This database compiles information on rare genetic diseases using laboratory analyses of the epigenetic signature from patients with suspected genetic abnormalities.

    The current study analyzed data from early EpiSign testing to validate the ability of the novel test to make a diagnosis. Epigenetic signatures have been identified for over 40 genetic disorders.

    The analysis studied EpiSign test performance and diagnostic yield in 207 subjects from two different cohorts. A targeted group included patients with previous genetic findings that were ambiguous or inconclusive. The second screening group was those with clinical findings consistent with hereditary neurodevelopment syndromes but with no previous genetic findings.

    “Of the 207 subjects tested, 57 were positive for a diagnostic episignature including 48 in the targeted cohort, and 9 in the screening cohort. Only four remained inconclusive after EpiSign analysis,” says Dr. Bekim Sadikovic, lead researcher at Lawson and Scientific and Clinical Director of the Verspeeten Clinical Genome Centre at London Health Sciences Centre (LHSC). “This gives us strong evidence for the clinical use of EpiSign, as well as the ability to provide conclusive findings in the majority of subjects tested.”

    While currently there are limited treatment options associated with many of these conditions, providing a diagnosis can help physicians better predict the course of the disease, and allows for better planning and support for the patient. EpiSign is the only test in the world that has been clinically validated for epigenetic testing for these types of genetic disorders, and in the US, is only available through GGC.

    “Patients with rare diseases often wait years and undergo numerous exams and tests before receiving a correct diagnosis, if one is found at all,” says Matthew Tedder, PhD, staff scientist at the Greenwood Genetic Center, who was involved in the study. “EpiSign provides an additional high-yield diagnostic tool for clinicians to include in their evaluation of patients with undiagnosed diseases, providing better medical management for patients and hope for their families.”

    The study, “Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders", is published in February’s Genetics in Medicine.

    For more information about EpiSign, visit, www.ggc.org/EpiSign.

  • sam patrick posted an article
    Greenwood Genetic Center project receives grant to expand access for genetics services see more

    The Greenwood Genetic Center (GGC), through the Self Regional Healthcare Foundation, has been awarded a grant of $899,000 from The Duke Endowment for 'Genetics Access for All,' a project to expand access to genetics services for patients and providers.

    "In this current era of genomic medicine, there is an increasing demand for clinical genetics services, but our workforce is insufficient to meet this demand, and our current work flows are inefficient," said Mike Lyons, MD, Director of Clinical Services at GGC and lead on the funded project. "This leads to families facing long waits to be evaluated and tested, and subsequent delays in managing and treating their child's condition."

    GGC has provided clinical genetics services since 1974; however, with the increase in demand for services, and inability of genetics training programs to keep up with the ensuing workforce demand, patients often wait for six months or longer to be seen.

    "This is not just a GGC issue. Genetics clinics around the country are facing wait times that are as long or longer than ours," said Steve Skinner, MD, GGC Director. "And we have found that as genomic technology has been evolving at such a rapid pace, many non-genetics providers do not feel comfortable ordering and interpreting genetic tests on their own."

    'Genetics Access for All' proposes a new standard of genetics care by optimizing access for patients and employing a new system of communication to transform how non-genetics providers engage with genetics providers in order to better manage their patients.

    In 2019, GGC and the Medical University of South Carolina (MUSC) signed an affiliation agreement with the goal of improving access to genetic services for patients across SC.

    One initiative that has grown out of this affiliation is a pilot project with the MUSC Center for Telehealth to develop an electronic consult (e-consult) system for genetics referrals. The project initially offered the option only to a limited number of referring providers in the MUSC system. Funding from The Duke Endowment will allow that project to expand on a much larger scale.

    During the first year of the funded project, GGC will implement e-consults through an online platform to allow non-genetics providers to upload patient information, and receive clinical impressions and testing recommendations within two business days. E-consults will help avoid unnecessary referrals, improve communication with non-genetic providers, and enhance efficiency by decreasing the amount of time needed for in-person and telemedicine visits.

    In year two, GGC plans to expand the concept to provide electronic patient visits (e-visits) allowing patients to upload their information electronically and quickly receive clinical feedback and recommendations. The goal of e-visits is not to replace in-person or telegenetics visits, but to provide another care option that improves communication with and access for patients.

    Lyons says that the ultimate goal of this project is to change the model of genetics care from a long diagnostic odyssey to a more efficient system that decreases unnecessary referrals, expedites diagnoses, and decreases wait times for appointments.

    "Through e-consults, we'll be able to more quickly identify patients who need genetic testing and facilitate the appropriate testing," he said. "A rapid diagnosis will allow for more timely and precise management and treatment for all patients impacted by a genetic disorder."

    GGC expects to see significant improvements in patient care as the project expands. "Our goals are to complete 50 outpatient and 25 inpatient e-consults and 25 e-visits per month by the end of the grant cycle," said Lyons. "We anticipate this project to dramatically improve wait times for all types of visits, and hope that our success can be translated into a new model for genetics care in clinics nationwide."

     

    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. For more information about GGC please visit www.ggc.org.

     

    About The Duke Endowment

    Based in Charlotte and established in 1924 by industrialist and philanthropist James B. Duke, The Duke Endowment is a private foundation that strengthens communities in North Carolina and South Carolina by nurturing children, promoting health, educating minds and enriching spirits. Since its founding, it has distributed more than $4 billion in grants. The Endowment shares a name with Duke University and Duke Energy, but all are separate organizations.

  • sam patrick posted an article
    MUSC partners with Greenwood Genetic Center see more

    The Greenwood Genetic Center (GGC) and the Medical University of South Carolina (MUSC) have signed an affiliation agreement with the goal of providing patients across South Carolina with accessible, high-quality, coordinated and cost-effective genetic services through a collaborative approach to providing medical care. The two entities have worked together informally on clinical consultations, provider education and research for more than a decade. This affiliation seeks to formalize and expand the depth and breadth of the relationship. According to MUSC, a partnership with the state’s most advanced and innovative genetic center was an easy choice.

    “I live in Greenwood, and I’ve said for years that a lot people don’t understand what an absolute gem this center is,” said Charles Schulze, chairman of the MUSC Board of Trustees. “They’ve helped almost 100,000 families across the state make incredibly important decisions, unmasked difficult-to-diagnose conditions, and have been there for these families every step of the way when faced with good news, or not so good news.”

    While there are any number of reasons people may want to learn more about how their genetics may affect their or their loved ones health, all patients want the same thing: high-quality care at the lowest cost and access to the latest technologies, diagnostics and research related to their genetic stories. In the interest of better serving these needs, the initial goals of the partnership include:

    • Increasing access to clinical genetic services for MUSC patients and all South Carolinians
    • Optimizing the patient journey to improve wait times for appointments and consultations
    • Sharing critical resources and expertise where possible to lower costs
    • Pursuing workforce development, research, clinical trials and treatment collaborations.

    Nearly every child in South Carolina who was diagnosed with a genetic birth defect, developmental delay or other hereditary disorder has already been referred to GGC, due to the center’s expertise with rare conditions and commitment to new technologies and diagnostics. GGC, a nonprofit institute centered on research, clinical genetic services, diagnostic laboratory testing and educational programs and resources, is focused on compassionate patient care and innovative scientific advancement.

    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. For more information about GGC please visit www.ggc.org.

  • sam patrick posted an article
    Greenwood, SC is an emerging player in life sciences... see more

    As far as Sam Konduros, President and CEO of SCBIO, is concerned, the Palmetto State boasts a surprise player among the major hubs for cutting edge biotech study.

    “When I talk about the four major research institutions in the state of South Carolina, it’s our three research universities and Greenwood Genetic (Center), that’s how good that team is,” Konduros, CEO of SCBIO, told the Greenwood Partnership Alliance’s board this week. “People don’t know South Carolina as a life sciences story, they don’t know Greenwood, so we’re really surprising our own population with what we do have, and then we’re spending a lot of time trying to make sure that message is getting out around the world.”

    Read the full article here from the Greenwood Index Journal...

  • sam patrick posted an article
    Greenwood, South Carolina's globally recognized genetics center is further investing... see more

    Greenwood Genetic Center has invested more than $1.75 million in laboratory equipment and a new on-site aquaculture facility that the organization says is the largest zebrafish facility in the state.

    The new equipment includes a NovaSeq DNA sequencing system and a confocal microscopy system. The Illumina NovaSeq 6000 System offers high-throughput sequencing across a broad range of applications. The NovaSeq also meets the research needs of both the center and the Clemson Center for Human GeneticsRead the full news release here.

  • sam patrick posted an article
    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. 

  • sam patrick posted an article
    State-of-the-art facility equipped with world-class labs, technologically advanced instrumentation see more

    The Clemson Center for Human Genetics officially opened for business Tuesday evening, celebrating with an enthusiastic gathering of supporters who met with scientists and toured the state-of-the-art facility.

    Piloted by a cadre of researchers equipped with world-class laboratories and technologically advanced instrumentation, Clemson’s Center for Human Genetics has successfully landed on the global stage – both in talent and scope. The center, which is part of Clemson’s College of Science, is dedicated to advancing knowledge of the fundamental principles by which genetic and environmental factors determine and predict healthy traits and susceptibility to disease.

    The center is housed in Self Regional Hall with eight laboratories and several classrooms, conference rooms and offices for faculty and graduate students. The 17,000-square-foot building is located on the campus of the Greenwood Genetic Center. During Tuesday’s event, the labs and hallways were jammed with guests.

    Trudy Mackay, director of the Center for Human Genetics, is recognized as one of the world’s leading authorities on the genetics of complex traits. Mackay, the Self Family Endowed Chair in Human Genetics and Professor of Genetics and Biochemistry, is a fellow of the American Association for the Advancement of Science. She has also been elected to the American Academy of Arts and Sciences, the Royal Society of London and the National Academy of Sciences.

    Mackay is joined at Clemson by Robert Anholt, Provost’s Distinguished Professor of Genetics and Biochemistry and director of Faculty Excellence Initiatives in the College of Science. Anholt is also a member of the American Association for the Advancement of Science.

    “This is an exciting time in the field of human genetics and its connection to health and well-being,” said Mackay, who has won numerous international awards, including the prestigious Wolf Prize, published more than 200 papers and trained graduate and postdoctoral students who have gone on to represent the next generation of geneticists. “We now know that all of us are 99.9 percent identical in our DNA, but that 10th of a percent difference translates to 3 million small genetic differences between any two of us. The challenge now is to understand how these molecular differences in DNA affect our susceptibility to diseases like cancer and heart ailments.”

    Tuesday’s event was the culmination of 13 years of planning, collaboration and diligence. The naming of Self Regional Hall recognized the ongoing support from Self Regional Healthcare, which has contributed $5.6 million to the facility. In addition, the $4 million endowed chair held by Mackay was funded equally by the Self Family Foundation and the state of South Carolina.

    “We are confident that our investment in the Self Family Endowed Chair for Human Genetics will pay huge dividends in furthering research to prevent, treat and cure genetic disorders,” said Frank Wideman, president of the Self Family Foundation. “We believe the synergy brought about by the intellectual capital of the Clemson Center for Human Genetics and that of the Greenwood Genetic Center has unlimited potential.”

    Clemson University President James P. Clements praised the Self family, the city of Greenwood, Greenwood County, the Greenwood Commissioners of Public Works and the Greenwood Partnership Alliance for their generous support.

    “Our partnership with the Greenwood Genetic Center, along with the amazing support we are receiving from Self Regional Healthcare and the Self Family Foundation, will allow our faculty researchers to translate their findings into tangible treatment options more quickly and efficiently,” Clements said. “The work being done here has the potential to make a huge difference in improving lives, which is at the core of Clemson’s mission as a land-grant university.”

    Mackay and Anholt came to Clemson from North Carolina State, where they had conducted research for a combined 55 years. Most of Mackay’s new Clemson team also hail from N.C. State, including staff scientists Richard Lyman and Roberta Lyman, postdoctoral research associate Chad Highfill and doctoral students Brandon Baker and Sneha Mokashi. Rebecca Jones, who graduated with a bachelor’s degree in genetics from Clemson in May 2018, will be joining the team as a graduate student. Karl Kelly will continue to provide support as director of operations.

    The Center for Human Genetics will work in partnership with the Greenwood Genetic Center, a nonprofit institute that focuses on clinical genetic services, diagnostic laboratory testing, educational programs and research. Mackay and her team will interact regularly with Greenwood Genetic Center personnel.

    “This is an outstanding example of how the power of partnership can collectively harness talent to improve lives,” said Cynthia Y. Young, founding dean of Clemson’s College of Science. “Together, we have put a stake in the ground to develop a globally recognized center of excellence around human genetics anchored by some of the world’s most talented scientists.”

    Dr. Steve Skinner, director of the Greenwood Genetic Center, said that the impact of the collaboration between the two centers will be transformative for genomics medicine.

    “With the research expertise of Drs. Mackay and Anholt, and GGC’s illustrious history of providing clinical care and human genetics advancements, our combined efforts will advance the understanding of human diseases and behaviors, as well as guide us toward potential treatments to improve the quality of life for those impacted by neurodevelopmental and other genetic disorders.”

    Skinner cited the recent joint acquisition of a NovaSeq 6000 DNA sequencer from Illumina as proof of the potency of the partnership.

    “The NovaSeq is the most powerful sequencer available, and we have the only one in South Carolina,” Skinner said. “This instrument not only increases our DNA sequencing capacity and ability to diagnose complex patients though whole genome sequencing, it also provides genomic data to advance Clemson’s studies and GGC’s zebrafish models with the ultimate goal of improving patient health and quality of life.”

    The main goals of the Center for Human Genetics include:

    • Leverage comprehensive genetic approaches and comparative genomics to explain the fundamental principles of human complex traits, including disease risk.

    • Promote precision medicine.

    • Develop local, regional, national and international collaborations to advance human genetics.

    • Educate the next generation of human geneticists.

    • Promote public understanding of human genetics through community outreach.

    Much of the above will be accomplished by studying the inner workings of an insect that is smaller than a grain of rice. The fruit fly Drosophila melanogaster has turned out to be a remarkably powerful gene discovery system for large-scale, population-based genetic studies. About 70 percent of fly genes have human counterparts, which enable the construction of contextual genetic networks. Using the fly as their catalyst, Mackay and her team will seek new breakthroughs in the treatment of addiction, glaucoma, alcohol and fatty liver disease, oxidative stress, heavy metal toxicity, aging and neurological disorders.

    “I am proud to lead Clemson’s Center for Human Genetics in Greenwood,” Mackay said. “We will have a strong connection to the main campus at Clemson to strengthen our research and academic core. Together with our partners, we will accomplish a great deal in the coming years.”

  • sam patrick posted an article
    Personalized approaches to treating autism spectrum disorder advance... see more

    The Greenwood Genetic Center and Swiss biotechnology innovator, Stalicla, have signed a research agreement to collaborate on personalized approaches to treating autism spectrum disorder, or ASD. Stalicla has developed an algorithm platform based on big data to bring precision medicine to subtypes of autism spectrum disorder patients, according to a news release.

    “Over the past 10 years, evidence has accumulated pointing toward alterations in molecular pathways that lead to abnormal cell functioning in ASD,” said Lynn Durham, CEO of Geneva-based Stalicla, in the release. “At Stalicla, we are looking to bring disease-modifying personalized medicine to patients with ASD, one subgroup after the other.”

    Read the full story here from our friends at GSA Business Report.