About Us
The Emory Down Syndrome Project and the Study of Down Syndrome and Congenital Heart Defects represent overlapping studies conducted by a team of scientists and physicians who have been involved in Down syndrome research for more than a decade. The study is based in the Department of Human Genetics at Emory University in Atlanta, Georgia, and is funded by the National Institute of Health.
The chromosome error that leads to Down syndrome affects all aspects of health and development. Individuals with Down syndrome are at an increased risk for heart, gastrointestinal, hematologic, respiratory, visual, sensory-motor, speech and language, and hearing problems. Specialized care and early intervention can help ensure that individuals with Down syndrome develop to their full potential.
Mission Statement
The mission of the Down Syndrome Center is to improve the lives of individuals with Down syndrome and their families by combining excellence in research, clinical services, and education.
Research
- Learning more about the chromosome error that leads to Down syndrome.
- Understanding the medical and developmental consequences of an extra chromosome 21.
Clinical Services
- Providing excellent clinical services to individuals with Down syndrome and their families.
- Applying knowledge gained through research to improve lives.
Education
- Using our research and clinical experience to educate the rising generation of health professionals about Down syndrome.
- Working with families, parent organizations, and others to improve the understanding of Down syndrome in the community.
Research Goals
Our primary goal is to learn more about the cause of Down syndrome and its related medical problems.
Through our current research, we hope to uncover new information about:
- What genetic or environmental factors play a role in the severity or presence of specific medical problems associated with Down syndrome? For example, why do some infants with heart defects and others do not?
- Where can we intervene to reduce the occurrence of these medical problems?
- What causes an extra chromosome 21 to be packaged into an egg or sperm?
- Why does the age of a woman influence the behavior of chromosomes during the formation of an egg?
Research Team Members
The Down Syndrome Research team is comprised of experienced Human Genetics faculty and staff members committed to discovering more about down syndrome.
Past Projects
Enrollment has concluded for these studies, but we are continuing to analyze data and thank you to all the families that have continued to support our research efforts at Emory.