LOS ANGELES (April 12, 1999) -- Uncovering the causes and, eventually, a "cure" for skeletal dysplasias -- a group of more than 200 disorders that cause dwarfism - are the goals behind the International Skeletal Dysplasia Registry at Cedars-Sinai Medical Center. The registry is the world's largest referral center for the diagnosis and management of skeletal dysplasias, which affect one in 5,000 to 10,000 people.
"Information gathered through the registry is allowing us to determine the causes of the condition and to develop methods of prevention and treatment," explained David L. Rimoin, M.D., Ph.D., director of the registry as well as the Skeletal Dysplasia Program and the Medical Genetics-Birth Defects Center at Cedars-Sinai. "The eventual hope is identifying a means of 'masking,' or undoing, the genetic defect to eliminate this disorder."
One of only a handful of physicians involved in the field, Dr. Rimoin began the registry in the early 1970s as a means of researching and collecting information on the disorder, which can ALSO result in orthopedic, eye and neurological problems.
"When I first got involved in this field 30 years ago, nothing was really known about skeletal dysplasia beyond the physical characteristics of those with the disorder and how it appeared on X-rays," said Dr. Rimoin, who is also Steven Spielberg Chairman of Pediatrics and director of the Ahmanson Pediatric Center. "Very few physicians were involved in the study of skeletal dysplasias, so there was little information on the pathology or cause of the defects. Some of the disorders are very rare so you need a number of samples, and I started to collect information on cases throughout the world."
The International Skeletal Dysplasia Registry, part of a National Institute of
Health project, studies the natural history, treatment and basic causes of
skeletal dysplasias. The registry works with physicians worldwide to diagnose
cases that are submitted and to collaborate wi
Contact: Sandra Van
Cedars-Sinai Medical Center