Emory University
In 1991, Stephen T. Warren, PhD, chair of the Department of Human Genetics at Emory University School of Medicine, led an international research team that discovered the FMR1 gene, which is responsible for fragile X syndrome, the most frequent inherited form of mental retardation. In 1993 they characterized FMRP, the protein expressed by the normal FMR1 gene, and learned that fragile X syndrome occurs when the FMR1 gene does not produce the FMRP protein, resulting in the abnormal translation of other genes into proteins required for neuron interaction.
Raymond F. Schinazi, PhD, and Dennis C. Liotta, PhD, are co-inventors of some of the world’s most widely used anti-HIV pharmaceuticals, including lamivudine, based on the compound 3TC and marketed as Epivir®, and emtricitabine, based on the compound FTC and marketed as Emtriva®. These discoveries have led to successful HAART therapies for HIV/AIDS and to the dramatic decline in mortality in HIV-infected individuals. Dr. Schinazi is professor of pediatrics at Emory University School of Medicine and research career scientist at the Atlanta Veterans Affairs Medical Center, and Dr. Liotta is professor of chemistry at Emory College and Graduate School of Arts and Sciences.
Cardiologist Andreas Gruentzig, while living in Switzerland in 1977, performed the world’s first percutaneous transluminal coronary angioplasty, successfully opening a blockage in a patient’s coronary artery and restoring blood flow to the patient’s heart. Dr. Gruentzig joined Emory’s faculty in 1980 and worked with other Emory cardiologists to research and refine angioplasty, the intervention he developed. Emory became the international training center for angioplasty, which has become one of the world’s most successful treatments for coronary artery blockages.
In 1987 Emory cardiologist John Douglas, Jr., MD, performed the first coronary stent implant in the United States. Pioneering work was done at Emory to determine the safety and efficacy of intracoronary stents, and the design and appropriateness of stents to prop open damaged coronary arteries has continued to be researched and refined at Emory.
In 1997 Emory cardiothoracic surgeon John Puskas, MD, performed the world’s first minimally invasive triple “keyhole” off-pump bypass surgery on a beating heart, using Mini-CABG instrumentation. The new procedure eliminates need for a heart-lung machine and eliminates the costs and complications associated with traditional heart-lung bypass technology.
In 2003, Emory ophthalmologist Doyle Stulting, MD, performed the country’s first artificial corneal transplant, using a promising new device developed in Australia. The device offers hope to those who have had failed donor corneal transplants.
In the late 1990s, Emory University purchased a collection of mummies from a small museum in Niagara Falls, Canada. The mummies, which originally were acquired from Cairo in the 1860s, had fallen into a state of neglect. A team of Emory art historians, archaeologists, radiologists, and geneticists analyzed the mummies and determined that one of them was the missing Egyptian mummy Ramesses I, founder of the Egyptian Rameside dynasty more than 3,000 years ago and father of royal mummy Seti I and grandfather of Ramesses II, both of whom are housed in Egypt’s Cairo Museum. Ramesses I was the only royal mummy remaining outside of Egypt. In late 2003, after a year-long exhibition, Emory returned Ramesses to his native Egypt as a gesture of goodwill and global citizenship from Emory to the Egyptian government.
In the early 1990s Emory neurologist Mahlon Delong, MD, made new discoveries about the causes of Parkinson’s disease that led to a new understanding and improvement of conventional treatments and led to new treatment interventions. Scientists already knew that Parkinson’s is caused by degeneration of the dopamine neurons in the basal ganglia. Dr. Delong discovered that this deficiency sets off a chain reaction that causes other neurons to send excessive inhibitory signals to large portions of the brain’s frontal cortex, leading to the symptoms of Parkinson’s. Pallidotomy and Deep Brain Stimulation have since been successfully used to eliminate the neurons that are the source of these inhibitory signals and restore normal movement and function to severely disabled individuals.
Cardiothoracic surgeon Robert Guyton, MD, developed a revolutionary procedure to repair babies’ hearts that incorporates a patch that grows along with the heart and negates the need for additional surgery.
Emory geneticist Douglas C. Wallace, PhD (who moved to Univ. of Cal, Irvine 2 years ago), was the first to link mitochondrial DNA to human disease, in 1988. Dr. Wallace found that a form of blindness called Leber’s Hereditary Optic Neuropathy is caused by mitochondrial gene mutations. He went on to link such mutations to Parkinson’s, Alzheimer’s, muscular dystrophy, some forms of epilepsy, heart disease and adult-onset diabetes.
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