Pharmacogenomics of Intergenic SNPs and in Silico Modeling for Precision Therapy

This invention is a method for analyzing a single patient’s DNA and modeling how mutations and variations in intra-cell genomics will be expressed in the body. The information may be used to develop highly personalized therapies without the need for huge experimental data sets.

Background:
Personalized medicine is the next frontier in therapeutics. Unfortunately, highly specific therapies are virtually incompatible with traditional research methods, which focus on generalized efficacy in cohort-level studies. Because of this, inventors at the University of Arizona sought to create a method that personalized therapeutic profiles using data from only the individual patient. Without the need for cohort-level data, therapies can be more efficiently tailored to a patient's genome and, more importantly, the specific effects of the disease on their genome and vice versa.

Applications:

• Target critical pathways for drug therapies
• Development of personalized medicine based on personal genetic mutations/variations
• Research links between genetic variations and disease pathologies

Advantages:

• Employs single-subject data analysis by only requiring information about the patient
• Capable of using as few as two disease-affected cells
• Considers intra-cellular genetic heterogeneity
• Accounts for cell-to-cell variations and how these variations affect gene expression in the body as a whole