NIH Press Release
NATIONAL INSTITUTES OF HEALTH
National Human Genome
Research Institute

FOR IMMEDIATE RELEASE
Thursday, Mar. 13, 1997

NHGRI
sms@nhgri.nih.gov

National Conference on Smith-Magenis to be held at NIH

Bethesda, MD - Parents and Researchers Interested in Smith-Magenis Syndrome (PRISMS), a support group dedicated to the disease, will hold its first national conference March 14 and 15 at the National Institutes of Health in Bethesda, Maryland.

The conference will feature leading national and international experts on SMS, including the co-discoverers of the syndrome. Over 45 families with an affected child will attend from all over the U.S. The conference includes segments on the genetics of SMS, educational strategies, family stress, empowering parents, and current research.

For families with newly diagnosed child with SMS, the search for information on SMS is often a formidable task, since public and professional awareness about SMS and its implications for families is not widespread. Newly identified SMS families require up-to-date as well as emotional and peer support, enabling them to better care for their child with SMS. PRISMS, the support group for Parents and Researchers Interested in Smith-Magenis Syndrome, serves as a clearinghouse for information and resources about SMS.

Smith-Magenis Syndrome (SMS) is a distinct and clinically recognizable contiguous gene syndrome characterized by a specific pattern of physical, behavioral and developmental features. It is caused by a deletion of chromosome 17. The first group of children was described in the early 1980's by Ann C.M. Smith, M.A., a genetic counselor and Ellen Magenis, M.D., a cytogeneticist. Although the exact incidence is not known, SMS is rare and is estimated to occur in 1 of every 25,000 births. SMS is under diagnosed but with improved molecular cytogenetic techniques and increased professional awareness of SMS, the number of persons identified grows every year.

The conference is being co-sponsored with the Office of Rare Diseases and the National Human Genome Research Institute (NHGRI) at the National Institutes of Health, as well as MARHGN.


To Arrange Interview Contact:
Jeffrey Witherly (301) 402-8564
Galen Perry (301) 402-3035
Outreach and Education
NHGRI Division of Intramural Research