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:

CRIG Consent Form (PDF)


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.

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 6416.

Jonathan Russell
Director of Development
Discovery Programs and Partnerships