Tag: human genetics

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.