Discovering Monogenic Causes of Multi-Diseases by Mining Electronic Medical Records and Genetics Repositories

We present a method called SMDG (Single Multi-Disease Genes) for systematic discovery of monogenic causes of multi-diseases. Multi-disease conditions, quite common in older populations, are difficult to treat due to missing their precise medical guidelines and need for attention of multiple health care providers. Finding monogenic causes of these diseases would enable introducing new therapeutic approaches, focused on the remediation of mutations of single genes. SMDG is based on the hierarchical divisive clustering of electronic medical records (EMR) that include genetic data, and on the analysis of the public gene-to-disease and gene-to-gene repositories. The method was tested on the database of the Harvard Personal Genome Project (PGP), the gene-to-disease repository DisGeNET and the gene-to-gene interactions repository BioGRID. It identified possible new monogenic causes of selected multi-diseases, which were confirmed as valid hypotheses by examining related research papers.