Tag: chg

Trudy Mackay, the director of the Clemson University Center for Human Genetics, is widely recognized as one of the world’s leading authorities on the genetics of complex traits. Her groundbreaking research uses the common fruit fly Drosophila melanogaster to discover the genetic roots of complex traits — traits that are influenced by multiple genes — that are important to human health.

This impactful research has led Dr. Mackay to be honored by the Linnean Society of London with the Darwin-Wallace Medal, one of the top international prizes in evolutionary biology.

“I was surprised and delighted to learn that I am the recipient of the 2025 Darwin-Wallace Medal. It is a great honor to join the ranks of the celebrated evolutionary biologists who are recent and past recipients of this prestigious award,” Mackay said.

The Darwin-Wallace Medal was originally awarded in 1908 to commemorate the anniversary of the reading of a joint paper, which introduced the idea of evolution through natural selection, by Charles Darwin and Alfred Russel Wallace at a meeting of the Linnean Society on July 1, 1858. The first medals awarded in 1908 were awarded to Wallace himself and six others. The awards were given every 50 years until 2010, when the Linnean Society began awarding it to one person annually in recognition of the growing importance of research on evolutionary biology.

“Dr. Trudy Mackay’s receipt of the 2025 Darwin-Wallace Medal is a remarkable achievement and a testament to her pioneering contributions to evolutionary genetics,” said Executive Vice President for Academic Affairs and Provost Robert H. Jones. “Her groundbreaking research continues to shape our understanding of complex traits and inspire the global scientific community. Trudy’s work exemplifies the excellence we strive for at Clemson, and this honor further underscores the transformative impact of her scholarship on human health and the future of genetic research.”

Read more in the Clemson News article.

The brain is the most important organ in the body, being our command center and controlling everything from memory and movement to basics like the beating of your heart and breathing, deserves its own week of recognition.

Brain Awareness Week 2025, going on during the week of March 10-16, is the global campaign to foster public enthusiasm and support for brain science. In a Clemson News article written by our own senior genetics major Brooke Dillingham, assistant professor of genetics Dr. Tara Doucet-O’Hare and her research was featured.

Tara Doucet-O’Hare is an assistant professor in the Department of Genetics and Biochemistry and a member of the Clemson Center for Human Genetics. She studies dysfunctional chromatin remodeling’s impact on endogenous retrovirus expression and neural development by looking at how this incorporated DNA can lead to different cancers when mutated, such as clear cell meningioma and atypical teratoid rhabdoid tumors in the brain.

“These tumors tend to affect really young children. There are no targeted treatment options currently, and it’s hard enough for an adult to live through all of those things, let alone a young child,” she said.

Doucet-O’Hare has recently worked with a retroviral protein called an envelope protein, which is expressed on the membrane of cells and exported in extracellular vesicles. When mutations occur in the chromatin remodeling proteins, the envelop gene can be expressed when it’s supposed to be turned off, resulting in cancerous cells. This protein is more prevalent in cancerous brain cells.

“I showed if you knock out this protein in tumor cells, then you could essentially stop them from dividing so quickly and kill them,” Doucet-O’Hare said.

She and her colleagues at the National Institutes of Health have recently found a peptide that targets the envelope protein and is starting a pre-clinical trial with the National Cancer Institute and a neurosurgeon at the University of Miami to test its use as medicine.

Endogenous retroviruses were first discovered in chickens in the 1960s, leading Doucet-O’Hare to us chicken embryos in her research, obtained from the Clemson poultry farm, to model the migration of cells throughout development and to investigate the endogenous retrovirus life cycle since chickens develop similarly to humans.

The chicken embryo model also comes into use for the connection between retroviral proteins and chromatin remodeling. She looks at which mutations lead to tumors and how different mutations impact tumor location, cell origin and size.

Doucet-O’Hare plans to experiment with exposing the embryos to different carcinogens like BPA in plastics to see the downstream consequences on development in the future.

Read more in the Clemson News article.

How long ago the bond between dog and man was first formed is something scientists haven’t been able to ascertain.

New research involving Kelsey Witt Dillon, an assistant professor in the Clemson University Department of Genetics and Biochemistry and the Center for Human Genetics, is part of new research that now suggests indigenous people in interior Alaska had formed relationships with the ancestors of today’s dogs near the end of the Ice Age — a time at least 2,000 years earlier than previously thought.

“Dogs were the first animal to be domesticated, but it was so long ago that we don’t really know the details of when and how,” said Witt Dillon, a computational biologist and population geneticist whose research focuses on the history of dogs in the Americas. “Any time we come across archeological samples of canids — dogs, wolves or coyotes — we’re interested in learning more about them and their relationship with humans to try to shed light on that.”

The researchers used a database of 111 large canid specimens. Included was the tibia of an adult canine about 12,000 years old and an 8,100-year-old canine jawbone excavated. The scientists determined that the canines from which these two bones came from had regularly eaten salmon, a diet choice that wasn’t typical of canine, who typically hunted land animals for food. Researchers say these dogs likely were fed by humans or scavenged salmon left by humans.

“We have evidence that sometimes people had a very loose association with dogs, where the dogs would be around, but they didn’t have owners and they weren’t being actively managed in any way,” she said. “It was a relationship where the humans had some benefit from the dogs being around, maybe some protection from wolves, and the dogs got food and a bit of safety, too. The pet idea is newer and the breeds as we know them are newer.”

Witt Dillon said the goal of the project was to consider different lines of evidence at once to try get a picture of what human-dog and human-wolf interactions were like.

“We see a lot of evidence of people feeding dogs and taking care of them, and we see this through time. People have valued dogs for thousands of years. I think it’s a cool thing to see that we’ve had this very long, lasting relationship,” she said.

Dr. Witt Dillon’s research has been published in “Late Pleistocene onset of mutualistic human/canid (Canis spp.) relationships in subarctic Alaska.”

Read more and watch the video in the Clemson News article.

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. Gopalan was a postdoctoral scholar at the University of Southern California in the Center for Genetic Epidemiology and at Duke University in the Department of Evolutionary Anthropology. She joined the Department of Genetics and Biochemistry and the Center for Human Genetics at Clemson University as an assistant professor in late 2023.

What interested you in coming to Clemson University? I was drawn to Clemson University by the caliber of human genetics research being conducted here, particularly in uncovering the drivers of complex traits. It was also keen to be among colleagues that share a common goal of increasing the research profile of the university.

How did you get interested in your (degree, career, research)? I became interested in using genetics to understand human origins early on in my undergraduate program. I was fascinated by all the research coming out at the time that was discovering how human populations have been connected to each other throughout time. I chose to pursue a career in academia because I wanted to study how human history has shaped present-day patterns of genetic and phenotypic diversity. During my Ph.D., I also developed a strong interest in studying DNA methylation to better understand the impact of the environment on human traits.

What’s a short overview of what you do and hope to accomplish? Research in my lab focuses on unravelling the effects of past and present-day environmental pressures on the human genome and epigenome. The goal of our work is to gain a more complete picture of how natural selection and molecular biological processes interact to shape human phenotypes.

What have you discovered in your research? A lot of my research focuses on human populations that tend to be under-represented in genetics research. As a result, I have been able to find that the effects of aging on DNA is not the same across different populations, potentially due to differences in genetics, environmental exposures, or both. I have also found that the genetic diversity that exists among populations is a powerful tool that can increase our power to detect relationships between genes and traits.

What do you hope to teach our students? Humans are a diverse species in so many ways, but we are also a very young species. Because of our relatively recent common ancestry, we are all very similar to one another from a genetic perspective. Research in our field often focuses on human difference, for good reason, but I think it is important for us to convey this bigger picture to our students and to the public.

What do you like to do in your free time? I like to spend my free time outdoors tending my backyard garden, biking around town, or going for a hike. I also enjoy cooking, indoor rock climbing, and hanging out with my cat.