# THE SKELETAL DYSPLASIAS

> **NIH NIH P01** · CEDARS-SINAI MEDICAL CENTER · 1994 · $744,240

## Abstract

The skeletal dysplasias are a heterogeneous group of disorders which
result in disproportionate short stature and/or skeletal deformities.
Although they have long been considered to be generalized disorders of
endochondral and/or membranous ossification, the extent of their
heterogeneity has only recently been recognized and little is known
concerning their pathogenesis.  This project is directed toward a
multidisciplinary investigation of the clinical, genetic, morphologic,
biochemical and molecular characteristics of the skeletal dysplasias.
The specific aims of this proposal will be: (a) expansion and further
computerization of the International Skeletal Dysplasia Registry; (b)
Definition of the clinical variability and genetic heterogeneity of the
skeletal dysplasias; (c) definition of the natural history, growth
characteristics and complications of each of these disorders and
evaluation of methods for their treatment and management; (d) improvement
of methods for their prenatal diagnosis; (e) clinical evaluation of
medical and surgical methods of growth promotion; (f) elucidation of the
histological, histochemical, immunocytochemical and ultrastructural
characteristics of chondro-osseous tissue in each of these disorders; (g)
elucidation of their basic biochemical defects by means of biochemical
analysis of cartilage and cultured chondrocytes; (h) linkage analysis of
individual syndromes with RFLP's of certain candidate genes; and (i)
elucidation of their molecular defects by the analysis of collagen and
proteoglycan mRNA and DNA. This program project is divided into a core
facility - The International Skeletal Dysplasia Registry, plus five
separate grant proposals: (1) Clinical and morphological studies; (2)
Studies on differentiated chondrocytes in cultures; (3) Collagen
biochemistry in the skeletal dysplasias; (4) Molecular studies in the
skeletal dysplasias; (5) Analysis of proteoglycans in chondrodysplasias.

## Key facts

- **NIH application ID:** 2198622
- **Project number:** 5P01HD022657-08
- **Recipient organization:** CEDARS-SINAI MEDICAL CENTER
- **SAM.gov UEI:** NCSMA19DF7E6
- **Principal Investigator:** DAVID L RIMOIN
- **Activity code:** P01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 1994
- **Award amount:** $744,240
- **Award type:** 5
- **Project period:** 1986-12-01 → 1996-11-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/2198622

## Citation

> US National Institutes of Health, RePORTER application 2198622, THE SKELETAL DYSPLASIAS (5P01HD022657-08). Retrieved via MORVS 2026-10-25 from https://api.morvs.ai/grant/nih/2198622. Licensed CC0.

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