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Media Contact: Holly Korschun 23 September 2005    
  (404) 727-3990   Print  | Email ]

Emory Down Syndrome Clinic Brings 16 Years of Research Full Circle
Approximately one in every 600 to 800 infants worldwide is born with Down syndrome, a leading cause of mental retardation and birth defects, including abnormalities of the heart and gastrointestinal tract. In Atlanta, approximately 60 to 80 newborns are diagnosed with Down syndrome each year. Although the chromosomal basis for Down syndrome, trisomy 21, has been known for over 40 years, many questions remain about the exact mechanisms leading to trisomy 21, consequences of the extra chromosome, and potential treatment of those consequences.

The Down Syndrome Clinic at Emory, established in 2003, is the most recent addition to the Emory University School of Medicine's Down Syndrome Center in the Department of Human Genetics. Close to 200 families have thus far been seen in the Emory Down Syndrome Clinic, which currently sees children from birth to age three, but plans to expand soon to follow the children as they grow.

In 1989, through support from the NIH-sponsored Atlanta Down Syndrome Project, Dr. Stephanie Sherman, Emory professor of human genetics, and her colleagues began to address important questions about the causes and clinical consequences of Down syndrome. For example, why is an extra chromosome 21 occasionally packaged into an egg or sperm? And what explains the maternal age effect, a well-documented association between advanced maternal age and an increased chance of having a child with Down syndrome?

The Atlanta Down Syndrome Project included a unique combination of molecular and epidemiological methods. With the help of the Centers for Disease Control and Prevention (CDC), all Atlanta-area newborns with Down syndrome and their parents were invited to participate in the project by giving biological samples for molecular studies and responding to questionnaires covering medical and pregnancy history, family history, occupation and exposures. Families of newborns without Down syndrome were also enrolled for comparison studies.

During the first ten years of the study, Emory personnel traveled to the homes of Atlanta families to collect samples and complete questionnaires. Most of these parents had very young babies with Down syndrome, and the researchers were struck time and again by the parents' lack of information about the syndrome. Some parents were still struggling to understand and accept the diagnosis, while others remained unaware of the many resources available to them and their child in the Atlanta community.

"As I made home visits to enroll families in our research, it became clear to me that there was a critical need to establish a clinic at Emory devoted solely to children with Down syndrome and their families," said Sallie Freeman, PhD, assistant professor in the Department of Human Genetics and director of the Emory Down Syndrome Clinic.

In 2000, Dr. Sherman received a $6 million grant from the NIH to expand the Atlanta Project into the National Down Syndrome Project by adding five other research centers nationwide representing Arkansas, California, Iowa, New Jersey and New York.

From 1989 to the present, approximately 1,200 families of infants with Down syndrome have enrolled in the research, according to Dr. Sherman.

In addition, Dr. Sherman recently received a new NIH grant to expand the scope of Down syndrome studies with particular emphasis on examining the behavior of chromosomes during formation of the germ cells. "Our preliminary data analysis has led us to generate further hypotheses that we are anxious to explore," she said.

For more information about the Down Syndrome Clinic or to schedule an appointment, please call Aimee Anido, MS, clinic coordinator (404-778-8481). The clinic accepts Medicaid and many insurance plans. Information about the Emory Down Syndrome Research Project can be obtained through Helen Smith, research project coordinator (404-778-8477).

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