Tag: center for human genetics

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.

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. 

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.

Trudy Mackay, director of the Clemson University Center for Human Genetics and the Self Family Endowed Chair of Human Genetics at Clemson is recognized as one of the world’s leading authorities on the genetics of complex traits and for groundbreaking research that uses Drosophila melanogaster — the common fruit fly — to study the genetic and environmental basis of human diseases.

Dr. Mackay has been elected a Laureate Distinguished Fellow of the International Engineering and Technology Institute (IETI).

IETI’s vision is to promote sustainable and innovative practices through the harmonious development of natural sciences, engineering sciences, technological sciences and social sciences that intersect with engineering technology. IETI showcases the latest advancements in technology and science through forums, collaborations and publications.

The organization is honoring her pioneering work in the field of quantitative genetics, particularly her contributions to understanding the genetic architecture of complex traits and its profound impact on agriculture and human genetics. The IETI said Mackay’s innovative strategies have provided valuable insights into the complex interplay between genes and the environment, leading to practical applications in agricultural improvement and human health.

“This came as a total surprise – I had no idea I was even nominated! I am greatly honored to be a Laureate Distinguished Fellow of the IETI,” said Mackay.

Dr. Madeline Santana came to the Department of Genetics and Biochemistry from the Dominican Republic through the Fulbright Foreign Student Program, a highly selective international academic exchange program that enables graduate students, young professionals and artists from abroad to study and conduct research in the United States.

Dr. Santana’s professional background is in pediatrics in the Dominican Republic, and she had always desired to expand her knowledge in the field of genetics. After the extensive application and interview process and being named a Fulbright Scholar, she chose to attend Clemson University.

“It’s been a dream come true to immerse myself in another culture and gain new knowledge for my career. Fulbright made this possible, and I will be forever grateful.”

Dr. Santana is completing her studies and research at Clemson’s Center for Human Genetics located in Greenwood, SC. She is part of Drs. Trudy Mackay and Robert Anholt’s lab, where they are using fruit flies as model animals to study human diseases, particularly neurological and substance abuse. Dr. Santana’s research specifically focuses on a hereditary neurodegeneration with brain iron accumulation.

“I have enjoyed being at Clemson Center for Human Genetics. There is a lot of camaraderie, exchange of ideas and a community sense.”

Both as a Fulbright Scholar and personally having a dedication that stems from a desire to contribute meaningfully to the well-being of her community, Dr. Santana holds a commitment to return to her home country and utilize the vast knowledge she acquired during her time abroad. Armed with advanced methods for diagnostics, treatment and prognosis, she aims to introduce innovative ideas and fresh perspectives to enhance her country’s health system.

“The Fulbright experience equips me with academic expertise and instills a sense of responsibility to effect positive change upon my return home.”

She says she will always cherish her time at Clemson, where she has expanded her knowledge in the field of genetics, navigated a new research field and became more organized and time efficient.

“This past year has been filled with invaluable experiences that have propelled my career forward. Meeting people from diverse cultures, all united by our passion for advancing science has been truly inspiring.”