Month: October 2024

The director of the Clemson University Center for Human Genetics, Dr. Trudy Mackay, has been named Clemson University’s first-ever member of the prestigious National Academy of Medicine, one of the highest honors in the fields of health and medicine.

Mackay is among the 100 new members currently by NAM members. Election to the Academy recognizes individuals who have made major contributions to the advancement of medical sciences, health care and public health.

“Trudy Mackay is a world-renowned researcher in the field of genetics. Her election to the National Academy of Medicine is a historic and exciting day for Clemson University,” said President Jim Clements. “As Clemson’s first National Academy Member of Sciences and now our first National Academy Member of Medicine, Trudy continues to elevate our University’s research profile to new heights. I am thrilled that Trudy has received such an incredible honor, and I am excited to see how her research further transforms and positively impacts the lives of others for generations to come.”

Mackay is among the 100 new members elected Monday by current NAM members. Election to the Academy recognizes individuals who have made major contributions to the advancement of medical sciences, health care and public health.

“I am very honored that the National Academy of Medicine recognizes the value of my model organism work with fruit flies, which has so much potential to impact human health,” Mackay said.

Founded in 1970 as the Institute of Medicine, three academies make up the National Academies of Sciences, Engineering and Medicine — and Mackay is now a part of two of them, having been elected to the National Academy of Sciences in 2010 as well. Mackay is the only one in South Carolina to be elected to more than one.

Mackay’s groundbreaking research uses the common fruit fly Drosophila to discover the genetic roots of complex traits — traits that are influenced by multiple genes — that are important to human health. She developed the Drosophila Genetic Reference Panel, a valuable resource used by researchers from all around the world. The panel includes more than 1,000 fly lines with fully sequenced genomes.

“The whole premise of genetic medicine is that once you know the genes involved, you understand the processes and networks, or the context in which those genes are involved, which often leads to drugs that can target those disease,” said Mackay. “My work historically has been trying to identify those genes and understand those networks.”

Mackay said the NAM honor will enhance Clemson’s advancement of precision medicine.

“Dr. Mackay is a pioneer in human genetics, and this spectacular honor is further recognition of Clemson’s excellence in improving lives through research,” said Cynthia Young, dean of Clemson’s College of Science. “Clemson continues to accelerate her vision of precision medicine — integrating a person’s genetics, environment and lifestyle leading to healthier lives.”

Read more in the Clemson News article. 

In late October three junior biochemistry students represented the department at the annual Biomedical Engineering Society Meeting (BMES) in Baltimore, MD: James Marturano, Kathleen Doran and Addison Schaff (pictured left to right).

Established in 1968, BMES strives to be the professional home for biomedical engineers to assist you in navigating your career path and striving to make the work of biomedical engineering and those in allied fields, more visible. Their mission is to promote a collaborative and inclusive community to advance human health through education, discovery and translation, which drives their research and educational initiatives, including webinars, chapter programs and meetings.

Each student presented a poster of their research findings with their partner.

James Marturano, biochemistry
“Single measurement of DUB activity in multiple myeloma to identity subpopulations based on enzyme activity”

Katleen Doran, biochemistry
“Development of a 3D-Printed Device to Study How Bacteria Alters the 3D Migration of Breast Cancer Cells”

Addison Schaaf, biochemistry
“Co-culture between ER + breast cancer and bacteria using a 3-D printed platform to recreate the tumor microbiome”

Sydney Huiet B.S. ’19, M.S. ’22 remembers being as young as an elementary schooler, visiting friends’ houses and running home to tell her parents that her friend got their nose or eye color from their mom or dad, or what similarities they shared with their siblings.

“I actually knew from a very young age that I was interested in genetics. Even though I didn’t understand what genetics was at that point, I was naturally drawn to it. So, deciding to attend Clemson and study genetics was basically a no-brainer for me!”

Sydney grew up in Summerville, SC and was a genetics major and an animal and veterinary sciences minor, graduating in 2019 with her bachelor’s degree. Starting her sophomore year, Sydney began working in Dr. Leigh Anne Clark‘s Canine Genetics Lab, whose research focuses on identifying and characterizing the genetic underpinnings of complex diseases in dogs.

“Working in Dr. Clark’s lab allowed me to grow my passion for genetics and understand some of the health, emotional, and financial implications of having genetic testing available.”

Sydney completed her undergraduate departmental honors thesis in Dr. Clark’s lab and enjoyed the work so much that she decided to continue her research and stay for graduate school. Sydney worked on a variety of projects, but her undergraduate and master’s theses were both on a dental anomaly in Shetland sheepdogs called lance canine, discovering this condition was associated with having a decreased body size and discovered two linked variants that were causing this size reduction and increased risk for lance canine.

“This work resulted in a cover feature publication in PNAS and the creation of a genetic test for lance canine! This work was extremely rewarding and sparked my desire to go into the field of genetic testing.”

Even though Sydney was confident that working in the genetic testing industry was where she wanted her career to go, she decided to try something a bit different after graduating with her masters in genetics in 2022.

“I figured if I didn’t try something new now, then when would I? So I actually decided to try out working in forensic science at first. I worked at the North Carolina State Crime Laboratory in Hendersonville, NC for nearly two years as a scientist in the forensic biology unit.”

This role involved generating DNA profiles from crime scene evidence, performing statistical analysis to compare any unknown profiles to known standards in the case and testifying to these findings in court when necessary.

“It was rewarding work, but after a few years I knew my passion still lied with genetic testing.”

Sydney’s next move was to her current position at GeneDx, an industry leader in exome and genome testing. GeneDx is a genetic testing company that was founded in 2000 by two scientists from the National Institutes of Health, Sherri Bale and John Compton. GeneDx’s mission is to deliver health insights that inform diagnosis, direct treatment, and improve drug discovery.

Sydney’s is an associate genomic analyst on the Primary Analysis team at GenDx, where she designs PCR primers and send amps to the lab for anything needing confirmation, analyzes the resulting sequencing data and makes calls on whether the variants are real and what the zygosity of each family member is.

“Having accurate and timely results can make a monumental difference in developing a treatment plan for a patient and can save their family much emotional and financial stress. I find this work extremely rewarding, especially as GeneDx is continuing to offer tests with faster and faster turn-around-times for these patients.”

Sydney lives just outside of Charlotte, NC with her high school sweetheart-husband, Evan and works fully remote for GenDx. She is excited about the growing opportunities this field offers.

“There is a lot of growth in this field and at companies like GeneDx, so there are endless opportunities for career advancement, which is exciting! Right now I’m just enjoying newly-ish married life with my husband, Evan, and our three dogs Scout, Obi, and Pippin.”

Assistant professor Dr. Stephen Dolan studies microbial interactions in human infections, particularly the dynamics within polymicrobial communities that contribute to complex, multi-species infections.

Since joining Clemson University in 2023 as an assistant professor in the Department of Genetics and Biochemistry, his lab has been part of the Eukaryotic Pathogens Innovation Center (EPIC) — a leading interdisciplinary hub for cutting-edge research on devastating pathogens.

Dr. Dolan earned his Ph.D. in 2016 from Maynooth University in Ireland under the mentorship of Dr. Sean Doyle. His dissertation research employed comparative ‘omics and reverse genetics to uncover novel regulators of toxin production in the pathogenic fungus Aspergillus fumigatus.

Before coming to Clemson, Dr. Dolan was a Cystic Fibrosis Foundation (CFF) postdoctoral fellow in Dr. Marvin Whiteley’s lab at Georgia Tech and the Emory-Children’s Cystic Fibrosis Center in Atlanta, GA (2021–2023).

Prior to moving to the US, he was a Herchel Smith research fellow at the University of Cambridge, where he worked in Dr. Martin Welch’s lab. This fellowship allowed him to leverage comparative ‘omics techniques to study the key respiratory pathogen Pseudomonas aeruginosa, while also developing expertise in fungal-bacterial interactions in clinical settings.

Dr. Dolan’s research centers on respiratory infections in individuals with cystic fibrosis (CF), where abnormal mucus makes them vulnerable to a wide array of bacterial, viral and fungal pathogens. Rather than focusing on a single model organism, he has deliberately pursued broad training across multiple co-infecting human pathogens—most notably Aspergillus and Pseudomonas.

This comprehensive approach enables him to decipher the complex mechanisms of microbial communication during infection. By using clinical isolates from people with CF, Dr. Dolan explores how the physiology of both pathogens shifts when co-cultured in a model CF environment, compared to when they are grown in isolation.

Dr. Dolan’s research goal is to leverage this cross-kingdom perspective to uncover how fungi respond to bacterial presence (and vice versa) in polymicrobial settings. This insight is crucial for developing innovative therapeutic strategies that could revolutionize the treatment of microbial infections. Pathogenic microbes not only impose a significant burden on healthcare but also impact agriculture.

His research aims to elucidate the physiology and behavior of fungi during human infections, particularly in their interactions with bacteria. By advancing our mechanistic understanding of these processes, he seeks to contribute to the development of novel approaches to combat microbial pathogenesis.

Researchers at the Center for Human Genetics (CHG) in Greenwood, SC are using Drosophila melanogaster — the common fruit fly – to identify potential therapeutics for Sanfilippo syndrome.

Sanfilippo syndrome is a rare and fatal genetic metabolic disorder that is often referred to as childhood Alzheimer’s. Children with Sanfilippo syndrome lack a single enzyme necessary to break down and recycle heparan sulfate, a large, complex molecule that is important for cell-cell interactions resulting in too much partially degraded heparan sulfate accumulates inside cells in a compartment known as the lysosome and causing progressive damage, especially in the brain. There is no treatment or cure, with most suffering from the syndrome dying in their teens or early 20s.

Fruit flies share 75% of disease-causing genes with humans and is a well-established genetic model for studying the underlying genetic causes of rare human diseases.

“Drosophila also has heparin sulfate and all of the enzymes in the same pathway that degrades it,” Mackay said.

Researchers are tracking activity, sleep and how gene expression in the brain changes in the flies and are identifying human counterparts of the genes that were differentially expressed in flies with the mutations.

“We see changes in expression in components of the synapse and neurodevelopmental genes,” Mackay said.

Dr. Robert Anholt, Provost Distinguished Professor of Genetics and Biochemistry and Director of Faculty Excellence for Clemson’s College of Science said researchers don’t have to target the defective gene itself but can look for therapies that will act indirectly on the affected gene.

“There are multiple enzymes in the heparan sulfate degradation pathway and there is the potential that a modifier that acts on one component of the pathway could have beneficial effects across the entire pathway,” says Anholt.

This research is made possible by the two-year renewal grant from the Cure Sanfilippo Foundation, founded by South Carolina parents Glenn and Cara O’Neill after their daughter Eliza was diagnosed with the disorder. With this grant, CHG scientists will screen several drugs that are approved by the Federal Drug Administration for pediatric use to determine if they restore sleep patterns to normal in the mutant flies. The drugs will be selected based on known gene-drug interactions.

Dr. Stephen Dolan and Ph.D. student Jessica Aycock and undergraduate Mallory Murphy spent three days at the North American Cystic Fibrosis Conference (NACFC) in Boston, MA presenting their research and divulging in CF research from other academics and clinicians.

NACFC is amazing learning experience and opportunity to collaborate with other CF researchers. Both Jessica and Mallory received grants to attend this conference – Jessica was funded by the National Institutes of Health and the Cystic Fibrosis Foundation and Mallory was funded by a Seifert Scholarship.

Mallory and Jessica presented their research at the poster forum alongside other CF researchers and clinicians, while Dr. Dolan served as the co-chair and panelist of the “Fungal Infections in CF” session.

The title of Jessica’s research poster was “Pseudomonas aeruginosa detects fungal toxins using a novel regulatory cascade.”

The title of Mallory’s research poster was “Exploring the diversity and function of the RTA1-like protein family in Aspergillus fumigatus.” 

When junior genetics major and member of the Army National Guard Stephanie Toft got the call to come into work for hurricane Helene relief efforts, she didn’t hesitate.

“With the devastation that Hurricane Helene has caused the Carolinas, the need for assistance has been dire and that is one of the many reasons I chose to be in the military—to aid my state in moments of need.”

Stephanie works in the Aviation Unit in Greenville, which is always prepared and ready to assist with natural disasters being equipped with many aircrafts and well-trained pilots. Stephanie and her unit worked to rescue civilians and get tens of thousands of pounds of supplies transported to North Carolina.

“My official job title is an Aviation Operations Specialist, so I checked out equipment to the pilots going out to transport cargo and attempt rescues, communicated with them over the radio and made sure safety and success of the mission was the top priority.”

Overall, Stephanie and her unit accomplished many rescues of individuals trapped in isolated areas and their chinook aircrafts dropped 20,000lbs of supplies everyday as they went out to get food and water to those who desperately needed it. They even had aircrafts from New York and Florida come to their Greenville unit so they could head to North Carolina together to fully assist with relief efforts.

Stephanie was raised in Greenville, South Carolina and grew up having aspirations to follow in her sisters’ footsteps by joining the military.

“I have an immense passion for my job and aviation in general, and my goal is to complete my twenty years of service to retirement because I love my job so much!”

Stephanie is a transfer student, who after obtaining her associate’s degree, came to Clemson under a different major. However after hearing Dr. Alison Starr-Moss speak at the College of Science Open House about genetics as a major and career route, she switched paths.

“Dr. Starr-Moss explained it so well at the open house that choosing to pursue genetics at Clemson was a no-brainer. She explained how genetics takes biology and showcases life processes at such an in-depth level that I couldn’t help but want to get involved in research and explore what that meant.”

Stephanie currently works in Dr. Michael Sehorn’s DNA Cell Repair Lab. She just began working in the lab this semester and the excitement she has to learn more about the repair process and how homologous DNA repairs and breaks function is paramount to her aspirations to be involved in research in general.

Her plans after graduation are to attend graduate school and continue pursuing a genetics-related research career. Stephanie hopes to find some more amazing research opportunities to grow her lab experience and delve deeper into the fundamentals of genetics.

If you can’t find Stephanie working for the military or in a research lab, you can find her hiking, her favorite spot being Alaska!

“I may be a newbie to the world of genetics, but switching my major and joining the Clemson family absolutely was the right decision, and I feel as passionate about it as I do about joining the military!”

When Derrill Schumpert, M.D. was in middle school, he briefly wanted to be in a rock band when he grew up. He did end up being a rock star, just in a different capacity.

A life-long Clemson fan, Dr Schumpert’s love for the university was sort of passed down – his grandfather, father and brother all graduating from Clemson before him. When he arrived as a freshman, Derrill majored in biochemistry and minored in biological sciences.

After his dream of playing in a rock band subsided in high school, he became interested in medicine, and his studies in college only solidified that interest.

“I’ve been interested in medicine since high school but discovered interest in family medicine throughout college and interest in student health through residency.”

When Dr. Schumpert was an undergraduate at Clemson he was involved in a number of extracurricular activities including researching at the Organic Farm, two distinct research farm locations in Clemson; participating in Clemson Alpha Epsilon Delta, the national health pre-professional honor society; volunteering at Clemson Free Clinic, which provides free medical care and pharmaceuticals for eligible residents of Clemson, Central, Six Mile and Pendleton; and enrolling in the Clinical Applications course where he was able to gain shadowing experience.

After graduating in 2017, Dr. Schumpert attended East Tennessee State University (ETSU) for medical school with an emphasis in rural primary care. The Rural Primary Care Track at ETSU is a specially designed experience embedded within the overall four-year curriculum for students interested in practicing primary care in rural or underserved areas. It provides opportunities with a small cohort of students to develop the knowledge and skills necessary to practice in communities with limited resources and increased healthcare disparities. After medical school. Dr. Schumpert went on to residency.

“This June I completed my residency in Family Medicine with Prisma Health (Oconee Memorial Hospital).”

Upon completing his residency, everything comes full circle as Dr. Schumpert begins to live out his dream of being a rock star, serving as a staff physician at Redfern Health Center at Clemson University. Redfern strives to be an innovative health care system providing integrated quality services that are responsive to the needs of the University community.

“I get to work with a team of other physicians, nurses and specialists to provide care to undergraduate and graduate students of the Clemson University community.”

Dr. Schumpert notes that his biochemistry major provided a great foundation for a career in medicine. He is enjoying being back in the Clemson area, having free time again after completing residency, going to all the home Clemson games, hiking, running and spending time with his wife – another biochemistry major – family and friends.

“I love living in Clemson and getting to work for my alma mater!”