Core A, The International skeletal Dysplasia Registry (ISDR) was established 35 years ago and currently has over 14,700 cases in a secure, web-accessible, computerized database with an anonymized code for each ndividual. The Registry is the largest resource in the world for clinical and research material on the skeletal dysplasias and serves as the backbone of the research program. The materials include clinical information, radiographs, fixed and frozen chondro-osseous tissue samples, histology slides, electron micrographs, cultured fibroblasts and chondrocytes, lymphoblastoid cell lines, and DMA. The materials obtained by the Registry are extensively used by all the Projects as well as by numerous other collaborators. Radiographic and chondro-osseous morphological findings are encoded in the database in a searchable format for rapid identification of cases with similar findings. Cases entered into the Registry include patients seen in our Short Stature Clinics as well as cases submitted from around the world.
The Specific Aims of this Core include: 1) Expansionof the Registry;2). Cell culture, isolation of nucleic acids, and distribution of samples;and 3). Enhancement of the Registry database.

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Program Projects (P01)
Project #
5P01HD022657-23
Application #
7840365
Study Section
Pediatrics Subcommittee (CHHD)
Project Start
Project End
Budget Start
2009-05-01
Budget End
2010-04-30
Support Year
23
Fiscal Year
2009
Total Cost
$402,681
Indirect Cost
Name
Cedars-Sinai Medical Center
Department
Type
DUNS #
075307785
City
Los Angeles
State
CA
Country
United States
Zip Code
90048
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