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precision genetics

  • 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
    Vikor Scientific and Quantgene announce major advance in precision genomics see more

    Courtesy of GSA Business

    Starting this March, a South Carolina lab will become ground zero for a preventative test that can detect cancer-causing mutations, risks or tumors in advance through a quick blood sample taken at home or a physician’s office.

    S.C. life science organization SCBio and the Charleston Regional Development Alliance linked together Charleston’s Vikor Scientific and California’s Quantgene Inc. when the West Coast company was on the hunt for a lab that could commercialize its AI and genomic-powered preventative care program, Serenity.

    Serenity puts to task a deep genomic sequence process that covers 20,000 genes in combination with the disease, medication and lifestyle risks that could contribute to multiple variations of cancer. Along with the blood test, or “liquid biopsy,” it can detect cancerous mutations in the blood, according to Vikor Scientific co-founder Shea Harrelson.

    “What this means is that we can detect cancer early enough so that patients don’t have to resort to chemotherapy,” she said during SCBio’s Virtual Meeting Wednesday morning. “They may have options for immunotherapy or aggressive preventative strategies or even excisional therapy.”

    Patient-specific health profiles covering personal and family history, as well as lifestyle choices, will brief analysts on how additional risks may contribute to a patient’s likelihood of developing early-stage cancer, thus prompting preventative care.

    “With Serenity, we are first-to-market in combining liquid biopsy cancer detection with whole exome sequencing and advanced medical intelligence,” Johannes Bhakdi, founder and CEO of Quantgene, said in a news release. “We hope to unlock a new era in medicine in which trained physicians can detect multiple cancers at early stages in the blood with single molecule precision. Serenity brings genomic technologies to patients within an innovative system of preventative care that we believe will set a new standard in patient-centered personalized medicine. We are excited to take this important step with our partners at Vikor Scientific.”

    Vikor Scientific, a hub for medical testing, will process test results in collaboration with Serenity’s proprietary cloud for both individual end-users and health care professionals.

    The South Carolina company will launch its public awareness and physician education campaigns alongside the concierge-product release on March 1, according to Scotty Branch, co-founder of Vikor Scientific, and will soon build out its current location in Charleston.

    “Our number one goal is to educate physicians throughout the country, which is what we do best,” Branch told GSA Business Report, adding that the team is working to get insurance companies on board with the treatment program now.

    “Until then, the liquid biopsy, or the early detection portion, will be on a concierge or cash-paid basis,” he said.

    Vikor Scientific will conduct whole exome sequencing and send that information to the Serenity cloud for both physicians and individual consumers, potentially for a variety of uses.

    While existing genetic tests on the market like those sold by 23 and Me may be able to offer a surface level detection of certain cancer-causing genetic variations in a patient, Serenity takes genomic testing to the next step of preventative treatment, the company said.

    “Genetic mutations only play a role in about 5% to 10% of cancer,” Harrelson said. “So, there’s about 90-95% of cancers that don’t have genetic mutations, and without that, you still have a lot of familial cancers. And most people die from cancer than heart disease or automobile accidents, so this liquid biopsy test will be very important, because if patients have put stress on their body or smoke or other risk factors that can increase their chance for cancer, this liquid biopsy test is pretty painless and a great screening tool for this and other cancers that … like pancreatic cancer. We often don’t find out about pancreatic cancer until stage three or four.”

    Taking into account detected at-risk genetic variations, the Vikor-Quantgene team will analyze additional risks for early stages of cancer through the liquid biopsy test, in lieu of more invasive measures, which can detect whether nascent tumors are forming in the body.

    “It’s a great continuum of care,” he added. The test analysis could then be used, in tandem with additional data, to launch preventative treatment and care.

    “We need to use liquid biopsy as part of an annual or bi-annual screening,” Branch said.

    After a Monday Vikor Scientific Board meeting, Branch said 99% of the plans for the facility buildout have been nailed down. The full announcement will come when the company approves the final portion of its development strategy.

    “This is an amazing announcement for South Carolina and for economic development, where we are going to build out at our location at 22 West Edge, where Vikor’s location is currently,” he said. The company will start small with 10 to 20 new employees and scale up from there. “That is exciting news that a corporate hub would be located here in Charleston’s West Edge Medical Innovation District."

  • sam patrick posted an article
    SCRA funds organizations for their COVID work see more

    Compliments of Upstate Biz

    In response to the COVID-19 pandemic, the South Carolina Research Authority (SCRA) and its investment affiliate, SC Launch, Inc. have dedicated an additional $1.5 million in funding to support businesses that are providing coronavirus-related solutions and to help their current portfolio companies continue to meet their financial goals during this time.

    Companies receiving funding to provide COVID-19 solutions are:

    • Blue Eye Soft (COVID-19 detection and diagnosis)
    • Carolina Diagnostic Solutions (pulmonary self-monitoring tools)
    • Citibot (citizen engagement solution)
    • Elastrin Therapeutics (treatment of lung-related illnesses)
    • Pure Aqua Solution (destruction of pathogens including COVID-19)
    • Precision Genetics (COVID-19 testing)
    • Resiliency Technology, Inc. dba SHARPEN (mental health support for healthcare workers)
    • Zylö Therapeutics (treatment of COVID-19 and other lung related illnesses)

    Additional companies have received investments to help them continue growing their companies in spite of the pandemic. These are:

    • ActiveEd (Walkabout app promoting learning and physical activity)
    • BandwagonFanClub (fan demographic reporting to elevate event experiences)
    • Ellipsis Technologies (anti-fraud and other cybersecurity tools)
    • Global Transplant Solutions (organ preservation products)
    • PEC360 (patient experience software)
    • REsimplifi (commercial real estate property search)

    “Our mission of fueling South Carolina’s innovation economy includes answering the call to help during this COVID-19 pandemic. Many of our current client companies were already providing or developing solutions related to COVID-19 while others quickly pivoted to address the pandemic. We are proud to be able to provide the support necessary to maximize the impact of these solutions,” said Bob Quinn, Executive Director of SCRA.

    In addition to investing financially, SCRA is also involved in other initiatives to help fight the COVID-19 pandemic. Staff members are serving on various taskforces and committees with health systems and economic development organizations. Other SCRA-supported companies are providing solutions to the pandemic including Modjoul, which has developed an employee health screening platform, Humimic Medical and ZVerse, which are producing protective shields, and Vikor Scientific, which is providing respiratory pathogen testing. Lastly, SCRA is sharing COVID-19 resources online and through social media.

     

    About SCRA

    Chartered in 1983 by the State of South Carolina as a public, nonprofit corporation SCRA is a state-chartered organization that fuels job creation and grows South Carolina’s innovation economy. Through SCRA’s programs, SC Academic Innovations, SC Facilities, SC Launch and SC Ventures, researchers, developers and early-stage companies are receiving mentoring and funding, and may be eligible for an investment from SCRA’s investment affiliate, SC Launch, Inc.