Tag: clemson news

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.

Senior biochemistry student Ryan Mehlem was part of a group that won the Pay it Forward competition, sponsored by South Carolina’s Electric Cooperatives.

The Pay it Forward competition challenges students at Clemson University, South Carolina State University or the University of South Carolina to propose solutions to pressing social and economic problems in rural areas. Students work as teams to create a solution to a long-standing issue, presented as a research paper and video.

Other students in the winning group include Mercy Crapps and Natalia Nortz, both biological sciences majors. The group received $1,000 for their design for a mobile STEM academy toolkit that provides resources, volunteer support and community outreach to students in rural South Carolina schools. The STEM education toolkit helps teachers provide their students with an experiential learning approach that can complement textbook learning or computer simulations in the classroom.

“I remember from my middle school experience, I was able to do some molecular biology practices and techniques which was exciting and interesting,” said Mehlem. “And now I work with those in my own research, pretty much every day.”

When building their STEM education project proposal, the team’s research focused mostly on middle schools, talking to staff at several rural schools throughout the state before developing their initiative.

The trio plans to start with fewer than 10 schools before refining their toolkit and expanding to other locations.

In April Elizabeth Caldwell, genetics major and National Scholar, was named a 2024 Truman Scholar, recognized for her commitment to raising accessibility awareness and ambition to influence health care policy related to her rare disease research. 

The Truman Scholarship, named in honor of the late U.S. President Harry S. Truman, is given to high-achieving college students who show commitment to public service and potential to continue that service beyond graduation.

Elizabeth is Clemson’s fifth recipient of the Truman Scholarship in 42 years and is the only student in South Carolina to receive the honor this year. She will receive up to $30,000 for graduate study, leadership training, career counseling and other opportunities within the federal government. 

Originally from Hendersonville, TN, Elizabeth has been involved with the Accessibility Commission, Phi Delta Epsilon, the ASC Peer Tutoring Program, and the Clinical Undergraduate Research Experience in Surgery (CURES) course. In addition, she co-founded Tigers 4 Accessibility, Clemson’s only club that focuses on students with disabilities. Their mission is to increase inclusivity and accessibility on campus and within the greater Clemson community.

After falling in love with research while working in Dr. Michael Sehorn’s lab, Elizabeth decided to pursue a Dual Departmental Honors in G&B to culminate her research experiences into a thesis and solidify her findings. She hopes to integrate research into her future career as a physician and the departmental honors program has allowed her to build the skills necessary to succeed.

After graduation, Elizabeth plans to pursue an MD/MPH to intersect her passion for patient care, disability advocacy, and research, making a positive change in healthcare.

Read more in the Clemson News article. 

Genetics and sociology double major, Katie Barfield, is one of the twelve Clemson University students that have been named a 2024 Dixon Global Policy Scholar.

Created through an endowment from the active Clemson family members, the Dixon family, the Dixon Global Policy Scholars program is a selective and intensive program for high-achieving Honors College students with a demonstrated interest in major national or global issues.

During summer of 2024, the scholars will take specialized courses on global perspectives on politics, economics, philosophy and public policy and participate in an intensive study abroad experience in France and Germany, where they will visit European institutions, important historic sites and museums, and meet with key policymakers, diplomats, academics and journalists.

Congratulations, Katie!

Read more in the Clemson News article.

In April, Dr. Julia Frugoli, retired alumni distinguished professor of genetics, was named professor emeritus and inducted into the prestigious Clemson University Emeritus College.

A Clemson University professor emeritus is a regular faculty member who has served at the university for at least five years and in the academic profession for 15 years, and who has officially retired. The title of emeritus or emerita is added to their professorial rank in recognition of their service to the university, their place in the university community, and their ability to contribute to the university’s intellectual and cultural life.

During her career one of of Dr. Frugoli’s research goals was identifying the plant genes, hormones and environmental signals involved in nodule number regulation and construct a signal transduction pathway for the long distance communication pathway between the roots and shoots. This research is designed to understand nodule development and the plant control of nodulation to benefit agricultural production, both in legumes and other plants.

Emeritus status is an honor that shows respect for a distinguished career!

Read more in the Clemson News article.