Welcome to the European Skeletal Dysplasia Network

ESDN provides an integrated research and diagnostic network for skeletal dysplasias. The objectives of ESDN are two fold:

  • To understand what cellular, molecular and genetic factors cause bone dysplasias
  • To develop effective approaches for the diagnosis of bone dysplasias

Ultimately this integrated and multidisciplinary approach will promote the correct diagnosis of many skeletal dysplasias.

ESDN was established in January 2002 with funding from the European Commissions Fifth Framework Programme (contract number QLG1-CT-2001-02188) with additional financial support from the Swiss government (contract number OFES 01.0258).

ACMG Foundation David L. Rimoin Lifetime Achievement Award in Medical Genetics

After a career that spanned nearly half a century, Dr. David L. Rimoin, MD, PhD, founding president of the American College of Medical Genetics and Genomics, past president of the ACMG Foundation for Genetic and Genomic Medicine, and in many ways the founder of one of the most fast-paced specialties in modern clinical medicine, passed away on Sunday, May 27, 2012, in Los Angeles of pancreatic cancer, which had only been diagnosed two weeks before. Dr. Rimoin is perhaps best known for his decades of research into skeletal dysplasias and heritable disorders of connective tissue.

To honor Dr. Rimoin, medical genetics pioneer, the Board of Directors of the ACMG Foundation for Genetic and Genomic Medicine has renamed its most prestigious award the ACMG Foundation David L. Rimoin Lifetime Achievement Award in Medical Genetics. Dr. Rimoin was the second recipient of this award. This distinction, which now includes a monetary award, will be presented to an individual in the medical genetics profession who exemplifies a lifetime of achievements and personal qualities embodied by Dr. Rimoin.

To honor Dr. Rimoin’s life and legacy, to learn more about the David L. Rimoin Lifetime Achievement Award in Medical Genetics, and to donate to the Rimoin Award fund, please visit, www.acmgfoundation.org/Rimoin.