An platform to identify pathogenic loci.

Rare genetic disease discovery efforts typically lead to the identification of new disease genes. PreMIER ( Pre cision M edicine Integrated E xperimental R esources) is a collaborative platform designed to facilitate functional evaluation of human genetic variants in model systems, and to date the PreMIER Consortium has evaluated over 50 variants in patients with genetic disorders. To understand if could be used to identify pathogenic disease loci as part of the PreMIER Consortium, we used tissue-specific gene knockdown in the fly as a proof of principle experiment.