Funds are requested to support a 4-day international symposium for families with and professionals interested in the 22q11.2 deletion syndrome. The conference will be held from June 22-25, 2000 at the Penn Towers Hotel and The Children's Hospital of Philadelphia. The first such conference was held in Strasbourg, France in September 1998 and was attended by more than 100 professionals and parents representing 18 countries. The Philadelphia conference is expected to attract of 500 participants, including prominent laboratory and clinical researchers interested in the 22q11.2 deletion, as well as families from across the country and abroad. This conference will be the largest and most comprehensive meeting to date dedicated to this common genetic cause of congenital anomalies, speech and language disorders, and developmental disabilities. The 22q11.2 deletion syndrome is a complex genetic disorder affecting tens of thousands of children worldwide. Physical symptoms of the syndrome include abnormalities of the palate, heart, immune, gastrointestinal, and other body systems. In addition, the majority of affected individuals have delays in language, as well as other developmental disabilities. This is an extremely common diagnosis, approaching the frequency of Down syndrome. However, since the definitive laboratory test has only recently become available, patients are now just receiving accurate diagnosis, managements, and recurrence risk counseling. This symposium aims to bring together interested scientists and families from around the world to achieve the following goals: 1) to increase awareness of the syndrome and its symptoms among clinicians; 2) to stimulate international collaboration among 22q11.2 deletion researchers; 3) to educate families and their health care providers about the appropriate management and monitoring of children with the deletion syndrome; 4) to begin to educate educators about the specific learning disability associated with the deletion; and 5) to provide a forum for families and professionals to learn about each other's interests, needs, and concerns.

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Conference (R13)
Project #
1R13HD038344-01
Application #
6031295
Study Section
Pediatrics Subcommittee (CHHD)
Program Officer
Oster-Granite, Mary Lou
Project Start
2000-06-15
Project End
2001-05-31
Budget Start
2000-06-15
Budget End
2001-05-31
Support Year
1
Fiscal Year
2000
Total Cost
$18,000
Indirect Cost
Name
Children's Hospital of Philadelphia
Department
Type
DUNS #
073757627
City
Philadelphia
State
PA
Country
United States
Zip Code
19104