Advances in genomic science will revolutionize patient care in the coming years. The rapid pace of genetic discoveries following the recent sequencing of the human genome allows fundamental genetic discoveries to move quickly out of the laboratory to the patient.

Research to explore innovative therapies for genetic diseases will become possible. This research will enable the development of screening tests and targets for drugs creating tailor-made therapies for individual patients.

The Department of Human Genetics is committed to translating major research discoveries quickly into patient care. We have one of the longest-standing research programs on Fragile X syndrome in the world. In addition, the department is home to the largest Down syndrome research initiative in the United States. Enzyme replacement therapy for lysosomal storage diseases and individualized nutritional management for metabolic diseases based on a patient's genotype are just some examples of how genetic research is accelerating improvements in the care of patients with inherited disorders. We are currently seeking individuals to participate in the following areas of study:

• Down syndrome
• Fragile X syndrome
  
  • The Emory Study of Adult Learning (ESAL)
  • The Emory Study of Learning and Movement (ESLM)
  • The Emory Study of Premature Ovarian Failure (POF)
  • FMR1 Resequencing
• Galactosemia
• Genetics and Epilepsy
• Lysosomal Storage Diseases
• Mechanisms and Consequences of Chromosome Abnormalities
• Maple Syrup Urine Disease (MSUD)

Faculty

The research faculty in the Department of Human Genetics are inspiring, distinguished and energetic. They research groundbreaking ideas and have created several firsts in leading genetic science. Learn more about individual faculty members and their research below.

• Down syndrome - Sherman


• Fragile X syndrome - Warren, Sherman


• Genetic causes of mental retardation - Sherman, Warren, Ledbetter


• Genetic mapping of complex traits - Sherman, Epstein


• Genomics and genome evolution - Thomas


• Huntington disease - X. Li


• Inborn errors of metabolism -Fridovich-Keil


• Molecular mechanisms of inherited neurodegeneration - X. Li


• Nondisjunction of human chromosomes - Sherman,
  
• Normal function of proteins associated with genetic disease - Fridovich-Keil


• Trinucleotide expansion and Neurodegenerative disease - S. Li


• Neurogenetics - Warren


• Statistical methods for gene mapping - Epstein

How You Can Help

As we enter a new era in human genetics, the need for philanthropy to fund research and clinical services is key to ensuring that Emory University is at the forefront of the dramatic growth in patient care and research advances that have evolved from the human genome project. The Department of Human Genetics is committed to ushering this new era of medicine into Emory University School of Medicine and Emory Healthcare by providing the link between cutting-edge genetic research and patient care. Explore ways you can help accelerate the promise by calling (404)727-7126.