Dr Ruth Lovering
University College London
The integration of biomedical research, describing the biological processes relevant to Parkinson's, into the Gene Ontology database
Genome wide association studies, next generation sequencing, proteomics and transcriptomic datasets are currently being employed in many research laboratories to identify the genetic modifiers that regulate the penetrance of Parkinson’s and the genetic interactions that cause this polygenic condition. The constructive interpretation of the resulting high-throughput datasets will depend on the quality of annotations that are available for the identified gene products to detect relevant pathways, regulatory networks and biomarkers. Yet, there is a surprising and unacceptable gene annotation deficit within the neurological and immunological domains, both of which are relevant to Parkinson’s. We therefore request support to carry out a systematic and comprehensive functional annotation of human proteins in these domains through the generation and population of Gene Ontology (GO) terms that can then be integrated into widely accessed public resources, including the GO Consortium database, UniProt and NCBIGene, as well as freely available functional analysis tools, such as ALIGATOR, BioProfiling and GeneMania. The generation of this resource, at a fraction of the cost of genome wide association studies, will further our understanding of the molecular mechanisms underlying Parkinson’s and help researchers identify new targets for therapy. All annotations will be attributed to Parkinson’s UK to help raise awareness for Parkinson’s.