HOME >> MEDICINE >> NEWS
Causes, Prevention Of Dwarfism Are Goals Of International Skeletal Dysplasia Registry At Cedars-Sinai Medical Center

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
Sandy@VanCommunications.com
1-800-396-1002
Cedars-Sinai Medical Center
12-Apr-1999


Page: 1 2 3

Related medicine news :

1. Partnership for Prevention and ACPM commend expanded coverage of preventive services under Medicare
2. Prevention program curbs drug abuse among middle-school youth
3. Prevention Research Center to study benefits of home-based exercise in heart failure
4. Prevention of eye attacks
5. Emory Receives $14 Million Federal Grant To Coordinate 50-Site Brain Attack Prevention Trial
6. Study Shows That Pediatricians Play Crucial Role In Violence Prevention
7. AIDS Prevention: Does It Work? Paper Suggests New Way To Assess Prevention Programs
8. Acute Urinary Retention And BPH-Related Surgery: Predicting Those At Highest Risk And Prevention With Finasteride
9. Secondary Prevention Of Heart Disease Should Be Improved
10. Deaths Related To Intrapartum Asphyxia - Is There A Problem With Prevention?
11. Routine Dental X-ray May Be A Valuable Tool In Stroke Prevention

Post Your Comments:
(Date:7/30/2014)... sub-Saharan Africa is being revitalized and expanded through ... broadening curricula, upgrading Internet access and providing cutting-edge ... the first substantial publication by participants of the ... than 225 authors detailed progress being made at ... supplement being published today by the journal ...
(Date:7/30/2014)... 30, 2014 Good Neighbor Community ... an upcoming episode of Innovations with Ed Begley ... Dates and show times TBA. , In this ... Community Services’ vision to redefine the traditional approach ... dynamic services. Through passion, innovation, determination, excellence, and ...
(Date:7/30/2014)... It can happen in an instant: A small child pulls ... gets critically injured when the furniture tips over. "Every ... their homes and imagine what could tip over, fall off ... it becoming a reality," Dr. Alex Rosenau, president of the ... release. Between 2009 and 2011, roughly 43,000 people ended ...
(Date:7/30/2014)... to fuel cancer as well as evolutionary changes in ... that occur randomly throughout the genome. , However, recent ... formation of multiple mutations that arise simultaneously and in ... mutations are frequently found in regions where chromosomal rearrangements ... Cell Reports , may one day lead to ...
(Date:7/30/2014)... 30, 2014 Visitors to our region ... $8,500 to ensure its protection. Bob Kiesendahl, one of ... to the Delaware Highlands Conservancy for donations collected through ... $2-per-stay donations add up fast, as visitors welcome the ... Delaware River Region. , The Kiesendahl family has owned ...
Breaking Medicine News(10 mins):Health News:Journal supplement details progress in African medical education 2Health News:Journal supplement details progress in African medical education 3Health News:Good Neighbor Community Services to be Featured in an Upcoming Episode of Innovations With Ed Begley, Jr. 2Health News:Tip-Over Furniture Can Kill Kids 2Health News:Biologists describe mechanism promoting multiple DNA mutations 2Health News:Pocono Mountain Resort Guests Contribute Over $8500 to Protect Land in 6 Short Months 2
(Date:7/30/2014)... and Markets has announced the addition of the "Hematology ... their offering. http://photos.prnewswire.com/prnh/20130307/600769 The ... in developed countries; however, it is expected to witness high growth ... India , and Brazil in ... analyzers and reagents market is driven by factors such as increasing ...
(Date:7/30/2014)... Research and Markets has announced ... Packaging Industry Report 2014" report to their offering. ... The Global and Chinese Aseptic Packaging Industry Report is ... of the global Aseptic Packaging industry with a focus ... basic overview of the industry including definitions, classifications, applications ...
(Date:7/30/2014)... 2014   Unique Pizza and Subs Corporation ... UPZS), a Delaware Corporation, is pleased to announce ... Pharmaceutical Corporation ("Larasan"), a nature-based pharmaceutical company that produces ... US-based Larasan will work with Unique to help ... Larasan,s vast distribution network throughout China ...
Breaking Medicine Technology:Hematology Analyzers & Reagents Market - Forecasts to 2019 2Global and Chinese Aseptic Packaging Industry Report 2014 2Unique Pizza and Subs Announces Asian Distribution Agreement with Larasan Pharmaceutical Corporation 2Unique Pizza and Subs Announces Asian Distribution Agreement with Larasan Pharmaceutical Corporation 3
Cached News: