Research Studies and Clinical Trials

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:

• Genetics and Autism
• International Standard Cytogenomic Array Consortium
  
• Down syndrome
• Fragile X syndrome
  
  • The Emory Study of Adult Learning (ESAL)
  • The Emory Study of Learning and Movement (ESLM)
  • The Emory Study of Fragile X-Associated Primary Ovarian Insufficiency
  • FMR1 Resequencing
    
• Galactosemia
• Genetics and Epilepsy
• Lysosomal Storage Diseases
• Mechanisms and Consequences of Chromosome Abnormalities
• Maple Syrup Urine Disease (MSUD)
• Phenylketonuria (PKU)
  

  Consent to Research Form

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, Singh
• 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

CRISP Faculty Awards Search
CRISP (Computer Retrieval of Information on Scientific Projects) is a searchable database of federally funded biomedical research projects conducted at universities, hospitals, and other research institutions. Click here to go directly to the CRISP Query Form.

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.