Peter vd Akker wins NVHG prize

Peter van de Akker, MD, was awarded the prize for the best oral presentation at the NVHG Spring meeting 2011. The jury said it was an excellent presentation that was held very enthousiastically. The prize offers the winner the opportunity to attend the ESHG meeting.

The title of his presentation was: "The inversa type of recessive dystrophic Epidermolysis Bullosa is caused by specific arginine and glycine substitutions in type VII collagen."

He said: "It was a surprise to be awarded this prize at a conference where many presentations dealt with identifying new genes using "hot" techniques like exome sequencing or unravelling the functional role of mutations in known genes using advanced models. However, it proves that clinical genetics, phenotyping, and correlating phenotypes to genotypes are still very important issues in modern human genetics."