Grant: $145,500 - National Institutes of Health - Sep. 11, 2009
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Award Description: Our group focuses on understanding how amino acid substitutions disrupt molecular functions that cause human disease. In our currently funded R01, we are developing methods we call in silico functional profiling. This method works by learning residue-specific protein function and then estimates when it is disrupted. This research funds our efforts to characterize what the underlying molecular disruption a protein mutation is causing and thereby improve accuracy of these approaches. In this competitive revision application, we are proposing to expand our efforts to work with important data providers. We will do this in one supplemental aim. We will work to collaboratively annotate genetic data found in inherited disease, pharmacogenetics and somatic mutations in cancer at the protein, regulatory and transcript level. This effort is so important that we have formed collaborations with the leaders of genetic data collection efforts including inherited disease (the Human Gene Mutation Database, HGMD), somatic mutations in cancer (the Sanger sequencing group in the UK), and pharmacogenetics (PharmGKB). We also have an ongoing collaboration with a research laboratory that is globally identifying functional elements in transcripts, and we have shown (Sanford, et al 2008) that these elements are likely important in disease. In this project, we are proposing to expand our collaborations to include several new data providers to essentially apply our methods we describe in Preliminary Studies. In addition to our work in proteins, we will also include our efforts in splicing and regulation. By doing this research, we will enable projects that annotate functional elements to prioritize functional variation that occurs below the protein level.
Project Description: This ARRA grant was awarded effective 09/30/09.
Jobs Summary: N/A (Total jobs reported: 0)
Project Status: Not Started
This award's data was last updated on Sep. 11, 2009. Help expand these official descriptions using the wiki below.