Publications in August 2013

We have recently had two papers published.

Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases.

Hartley CL, Edwards S, Mullan L, Bell PA, Fresquet M, Boot-Handford RP, Briggs MD.

Hum Mol Genet. 2013 Aug 23. [Epub ahead of print] PubMed PMID: 23956175.

See Open Access article here

Analysis of the cartilage proteome from three different mouse models of genetic skeletal diseases reveals common and discrete disease signatures.

Bell PA, Wagener R, Zaucke F, Koch M, Selley J, Warwood S, Knight D, Boot-Handford RP, Thornton DJ, Briggs MD.

Biol Open. 2013 Aug 15;2(8):802-11. doi:10.1242/bio.20135280. PubMed PMID: 23951406; PubMed Central PMCID: PMC3744072.

See Open Access article here

In Memory of David Rimoin

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 here.