New DNA-based approach may be wave of the future see more
If your doctor knew your risk for colon cancer or heart disease years before the disease developed, he or she could help you take steps to prevent it.
And by collecting DNA samples from thousands of South Carolinians, the Medical University of South Carolina is embarking on a project which hopes to do just that.
In the initiative, which stakeholders call the first of its kind in the state, MUSC is partnering with population genomics company Helix to study DNA to drive a concept known as precision medicine. It allows providers and patients to develop health care plans with a more preventive approach.
The power in precision medicine cannot be overstated, said Dr. Lori McMahon, vice president and associate provost for research at MUSC.
“Genes are what make us who we are,” she told Integrated Media, publisher of Greenville Business Magazine, Columbia Business Monthly and Charleston Business Magazine.
“What we learn here … will influence care for individuals across the country and across the globe.”
The earlier genes associated with a disease are found, the better the chances of successful treatment, said Dr. Dan Judge, professor of medicine and cardiology at MUSC and director of cardiovascular genetics.
Theoretically, this concept might have helped “Black Panther” star and Anderson, S.C., native Chadwick Boseman, he said.
Boseman died last year of colon cancer at the age of 43, seven years before traditional colonoscopy screening typically begins, he said.
Had he learned through DNA testing that he had a propensity to develop the disease, that screening could have begun much earlier, perhaps in time to keep the cancer from progressing, he said.
And a woman with a genetic predisposition to breast cancer might begin mammograms at an earlier age or get more sensitive MRIs instead, Judge said.
“We hope we’ll be saving lives with this project,” he said. “That’s really the bottom line.”
The project will focus on certain forms of cancer and cardiovascular disease initially, but hopes to expand to other diseases in time, McMahon said.
Called “In Our DNA SC,” the project hopes to enlist 100,000 South Carolina adults – 25,000 a year for four years, Judge said.
The initiative will start with MUSC patients who already have an electronic health record and an upcoming appointment, he said. They will get a message through MyChart to let them know they’re eligible. Later, it will expand across South Carolina.
“It won’t be something that private physicians can order directly,” he said. “This program requires people to sign up through a review board process so that it’s gone through protocol, and safety and confidentiality issues are all addressed.”
Similar programs have identified as many as one in 75 participants who were at risk for a serious health issue, 90 percent of which would not have been discovered through traditional practice, said Dr. James Lu, CEO and co-founder of California-based Helix, which describes itself as a population genomics company at the intersection of clinical care, research and genomics.
“By expanding access and making genomic data actionable for health care providers,” he said, “we will be able to work in tandem with MUSC … to identify risk earlier and prevent or mitigate serious diseases for its community and beyond.”
The popularity of companies like 23andme shows that people want to understand their genetics, McMahon said.
“People are even buying DNA kits for their dogs,” she said.
The genetic test is free to participants and involves only a saliva sample.
Genetic counseling will be provided to patients whose DNA reveals a risk for disease so there can be further discussion of what it means for the patient and for family members who might be at risk as well, he said.
In addition to the clinical component, the project has a research component that will develop a dataset to advance genomics research.
It also will examine how genetic changes influence the development and progression of disease, McMahon said, and help in the development of new and better therapeutics.
For instance, some people respond to certain blood pressure medications while others don’t, but it’s not understood why.
“This will help us try to understand the genetic basis for that,” she said, “and who may need alternate therapy.”
Caroline Brown, chief of external affairs at MUSC, said the hospital system and Helix took steps to ensure that patient data are secure. While the results are linked to the patient’s medical record so his provider has access to them, the information is de-identified for research purposes, she said.
The genetic results will be entered into the participants’ medical records, like a chest X-ray or MRI results are, where they are available to insurers, Judge said.
While there is a law called the Genetic Information Nondiscrimination Act that protects people from health insurance or employment discrimination on the basis of genetics, information in medical records can be used to deny life insurance or charge more for it, he said. Patients will be informed of that as part of the consent form for participation, he said.
Brown said that as a state academic medical center, MUSC is focused on building its genomics prowess to ensure it can be a leader in precision medicine in the future. It chose to partner with Helix because of its established data analytics platform which is capable of large-scale projects like this, she said.
“MUSC looked for a strategic partner to offer genetic testing that can be provided to the patient and his provider so they better know how their genetic makeup impacts their health,” she said.
MUSC has identified funding for the program, Brown said, but she declined to divulge the cost.
McMahon said that when patients and providers are armed with genetic information, they can make better decisions about care going forward and push health care to a new level.
“This is the way of the future,” she said.
And Judge said he expects it will likely be routine within 20 years.
Arthrex, Clemson work to resolve workforce pipeline needs see more
As the biomedical industry continues to expand in South Carolina, so does Arthrex’s need for a specialized workforce.
Arthrex, a company engaged in the research, design and manufacture of minimally invasive surgical technology, announced in 2017 plans for its new $69 million facility and the creation of 1,000 new jobs in Sandy Springs. Kevin Grieff, Arthrex senior vice president of operations, said he expects to reach 1,000 employees by 2024.
A pair of programs with Clemson University helps bridge a divide between science and sales for the company’s future workforce.
Students like T.J. Biondolillo are also recognizing the need for more specialized education, especially when it comes to blending science and business.
“Both of the programs have helped my education immensely,” Biondolillo, a senior majoring in biological sciences, said in a news release. “As a biology student, who for the first two years of college had the goal of one day attending dental school, until I shadowed a neighbor who does medical device sales, I had pretty much no selling experience.”
Soon after the expansion announcement, Arthrex approached Clemson University with an educational partnership opportunity to help students develop the interdisciplinary skills to position them for success in the fast-growing orthopedic medical device field. The result was an educational pilot program designed with the needs of the global medical device industry in mind.
Arthrex has since expanded its partnership with Clemson, which is just 10 miles from the Sandy Springs location.
Working with the academic leaders and the Clemson University Office of Corporate Partnerships and Strategic Initiatives, the company has created scholarships and two certificate programs.
“Arthrex takes great pride in its commitment to education and we are pleased to help develop the next generation of highly skilled professionals like Arthrex technology consultants who work with orthopedic surgeons to provide trustworthy technical product support,” Arthrex President and founder Reinhold Schmieding said in the release.
The Sales Innovation Certificate Program and Orthopedic Medical Device Product Specialist certificate programs are designed to enable students from any major to explore medical device technology consulting. Through the programs, students gain knowledge of medical devices and techniques, and gain an introduction to the sales and marketing aspects of medical products. The programs are intended to create a strong pipeline to help support Arthrex’s growing needs in this area, according to the release.
More than 10 students in the Sales Innovation Certificate Program have been hired by Arthrex in the last two years.
“Through the strategic partnership with Arthrex, we have worked together to develop one-of-a-kind workforce development programs to support an integral partner need,” Angie Leidinger, vice president of external affairs for Clemson, said in the release. “The success of the pilot programs has showcased the talent of our faculty and students, and we’re excited about the opportunity to continue engaging with Arthrex in mutually beneficial ways that will strengthen educational outcomes while providing them with top-tier talent.”
After learning about the certificate program, Biondolillo said he jumped at the opportunity to gain the targeted knowledge in medical device sales.
“The Sales Innovation Program has improved my selling skills and taught me the principles of being a great salesperson and the Orthopedic Device Product Specialist Program has improved my product knowledge from materials used in devices to diagnosing issues and being able to properly convey product benefits,” he said in the release.
The Sales Innovation Program coursework is tailored to develop students’ business acumen, selling frameworks and presentation ability in order to equip them for roles in health care and medical device sales or related positions. Through the program, students also take part in real-world challenges, foundational role-play exercises and leadership opportunities, the release said.
The Orthopedic Medical Device Product Specialist Certificate provides students with core competencies in the orthopedic medical device industry with a focus on managing a product throughout its life cycle, including product development and performance relevant to clinical use, and communication of its commercial value.
In addition to the certificate programs that provide students a pathway to learning about medical device sales, the Arthrex Scholars program provides scholarships to those same students, according to the release.
Arthrex Scholars was announced in 2019 as a two-year pilot program, with the first scholarships awarded in 2020. Fifteen students pursuing medical device sales careers will receive $5,000 scholarships and a potential summer internship.
“Under the direction of Ryan Mullins, our Sales Innovation Program has shown an ability to connect students with companies like Arthrex that can potentially lead to sales careers with those organizations,” Jennifer Siemens, department of marketing chair, said in the release. “Arthrex’s investment as an innovation partner in our Sales Innovation Program helps students financially and potentially creates a pipeline to our best and brightest as their next generation of employees.”
Managed by the Department of Marketing and the Sales Innovation Program team, applications open during the fall semester and are awarded the following spring semester.
Arthrex also works with Clemson on several research projects, including a NanoScopeTM Surgical Imaging System reprocessing assessment with bioengineering associate professor Melinda Harma, according to the release.
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.
Monday Moment 5-4-2020 see more
SCBIO's latest Monday Moment arrives amidst the COVID-19 storm to provide meaningful and inspiring information in 3 minutes or less. This week, enjoy an uplifting reminder from University of South Carolina College of Pharmacy Dean Stephen Cutler saluting all those on the front lines of healthcare, plus helpful webinars, news on how SC is stepping up and the ever-popular 3 Great Links. Click here.
USC Upstate invited to be a member of the SC IDeA Networks of Biomedical Research Excellence see more
SPARTANBURG — The University of South Carolina Upstate has been invited to be a member of the South Carolina IDeA Networks of Biomedical Research Excellence (SC INBRE) as a Primarily Undergraduate Institution. As part of the application process, they detailed plans for an eight-week summer research program to support five to six faculty researchers and up to 12 student researchers yearly. If South Carolina is renewed as an IDeA state in 2020, Upstate will receive $500,000 to fund the summer program that they call ER(Up)T (Engaged Research and Training at Upstate) from 2020-2025.
“Investment in the ER(Up)T program will allow USC Upstate to mentor and engage the next generation of biomedical scientists and create a pipeline to increase the number of skilled biomedical professionals in South Carolina,” said Dr. Jeannie Chapman, interim dean of the College of Science and Technology at USC Upstate. “While there is biomedical research being conducted at USC Upstate, the ER(Up)T program will increase our ability to attract and retain more undergraduate students in our laboratories and further enhance the research culture at our institution, particularly amongst underrepresented minorities.”
“This new funding will create a summer research program that offers transformative, high-impact learning experiences for students who wish to pursue a career in biomedical research,” said Dr. Joshua Ruppel, associate professor of chemistry, co-author of the SC INBRE proposal, and ER(Up)T program director. “Over the course of eight weeks, students will conduct research in the laboratory with a faculty mentor and attend a number of research-related activities, including lab meetings about ongoing research, scientific ethics seminars, and graduate school information sessions. The students will be immersed in the culture of basic science research, and they will be provided opportunities that enhance their ability to achieve their career goals.”
According to Chapman, “USC Upstate is uniquely suited to enhance the pipeline of students attending graduate and professional schools in South Carolina. Our student body is primarily composed of S.C. residents (94% of all enrolled students), many of whom choose to stay in South Carolina upon completing their degrees. The research and programming that students will experience through ER(Up)T will increase students’ knowledge of careers in the biomedical sciences, groom them for graduate and professional school, and will ultimately enhance South Carolina’s biomedical industries by way of a better-educated and more scientifically-minded workforce.”
Both Chapman and Ruppel have a clear vision of how creating a summer research program will enhance the biomedical research currently underway at USC Upstate.
“USC Upstate has a vibrant biomedical research program, spearheaded by five faculty in the Division of Natural Sciences and Engineering,” Chapman said. “During the past five years, their combined research efforts have resulted in 20 peer-reviewed publications that have included multiple undergraduate co-authors, 46 scholarly presentations, and $652,000 of internal and external funding. While their individual efforts and achievements are impressive, this funding support from SC INBRE allows us to create a cohesive undergraduate research program.”
Current biomedical research at USC Upstate includes:
• Dr. Joshua Ruppel, associate professor of chemistry, received a National Institutes of Health (NIH) Academic Research Enhancement Award (AREA) Program (R15) in collaboration with Dr. Nicole Snyder of Davidson College to support meritorious research, expose students to research, and strengthen the research environment of the institution. His research is used to create and study the interaction of a class of new compounds with a protein associated with certain types of cancer.
• Dr. Bradley Baumgarner, assistant professor of biology, investigates the effect of various xenobiotics on skeletal and cardiac muscle metabolism, growth, and differentiation. In the past five years, his work has been focused on defining the mechanisms by which caffeine promotes macroautophagy and its role in regulating caffeine-dependent protein turnover (protein synthesis/protein degradation) in mammalian skeletal muscle cells.
• Dr. Ginny Webb, assistant professor of microbiology, investigates virulence factors of Cryptococcus neoformans, a facultative intracellular pathogen responsible for the most common cause of fungal meningitis worldwide. She also investigates the transmission of hospital acquired infections, which are a growing public health concern, accounting for 1.7 million infections each year in inpatient or outpatient medical facilities. The research aims to study the mechanisms of transmission of hospital-acquired infections with specific examination of pediatrician outpatient facilities to determine what touch surfaces may harbor pathogenic organisms and therefore potentially serve as a reservoir for harmful microbes.
• Dr. Anselm Omoike, assistant professor of chemistry, investigates the unique magnetic, large surface area, and nontoxic properties of iron oxide nanoparticles (magnetite) in synthesizing materials for drug delivery and biochemical separations. One aim is to coat magnetic iron oxide nanoparticles with lysine, producing free surface active amino groups for the delivery of curcumin, a drug with well-established wide ranging chemotherapeutic activities. His other project involves removing allergenic proteins from food products to develop fast and recyclable multilayer magnetic nanoparticles for the removal of major allergens from peanuts and peanut products. This work may contribute to knowledge of the conditions for efficient removal of allergenic proteins from a food system and help produce hypoallergenic peanut products.
• Dr. Kimberly Shorter, assistant professor of biology, investigates the potential negative consequences of excess folic acid consumption and its potential correlation with increases in autism rates. Her lab currently uses a human neuronal cell line as a model for testing the effects of excess folic acid (at a 2x dose) on epigenetic changes (DNA methylation/hydroxymethylation and histone modifications), gene expression changes, and neuromorphological changes (dendritic spines and vesicle trafficking).
SC INBRE is a five-year, $18.2 million renewable grant funded by the National Institutes of Health (NIH) National Institute of General Medical Sciences (NIGMS). Grant funds are administered through the University of South Carolina and go to financially supporting biomedical research throughout the State of South Carolina at SC INBRE’s network institutions and outreach institutions.
“We are very pleased to introduce some new faces in the renewal and are excited to see USC Upstate as one of those new faces,” said Cyndy Buckhaults, communications manager with the SC INBRE Program. “USC Upstate has a very active science research component and will be a great fit with the network.”
The Institutional Development Award (IDeA) program broadens the geographic distribution of NIH funding for biomedical research. The program fosters health-related research and enhances the competitiveness of investigators at institutions located in states that historically have had low levels of NIH funding by supporting basic, clinical, and translational research; faculty development; and infrastructure improvements.
For more information, contact Dr. Jeannie Chapman at 864-503-5768.
About USC Upstate
The University of South Carolina Upstate is a regional comprehensive university offering more than 40 undergraduate and graduate programs in the liberal arts and sciences, business administration, nursing, and education. Located along the I-85 corridor in Spartanburg between Greenville and Charlotte, USC Upstate is ranked by U.S. News & World Report at #2 among Top Public Schools. It serves as a major talent producer for the region, with more than 6,000 students, approximately 1,300 new graduates a year, and nearly 30,000 alumni, many of whom live and work in the state. The USC Upstate Spartans compete in 17 NCAA Division 1 sports as a member of the Big South Conference. For more information, visit www.uscupstate.edu.
MUSC topped its record for annual biomedical research funding with more than $276 million in FY2018 see more
The Medical University of South Carolina has broken its own record as the state’s leader in garnering extramural funding for biomedical research. MUSC set a new high-water mark in FY2018, bringing in more than $276.5 million. The previous MUSC record for annual biomedical research funding was more than $259 million, set in FY2016.
“Being the state’s leader in biomedical research funding year after year is a significant accomplishment, and we applaud the passion and expertise of our dedicated scientists and their teams,” said David J. Cole, M.D., FACS, MUSC president. “Even so, reaching another record-breaking number is not an end in itself. The true impact of MUSC research is reflected in how we translate discoveries into new modalities of care and life-changing therapeutics. Research is a dynamic force that fuels how we fulfill our mission to lead health innovation for the lives we touch,” he added.
Kathleen Brady, M.D., Ph.D., vice president for Research, called the accomplishment outstanding, especially during a period when being awarded research grant funding has become more intensely competitive than ever before. No other publicly assisted academic institution in South Carolina consistently garners near $250 million in research funding year after year.