Validating predictive genetic variation

Perlegen is an expert in understanding human genetic variation within and across diverse patient populations. Our business is based on creating and commercializing tests that provide physicians with information that will significantly improve the clinical decision-making process and ultimately improve patient treatment outcomes. Our tests are based on discovering and validating genetic signatures that predict how patients are likely to respond to medical treatments as well as their susceptibility or predisposition to certain diseases.

Focused on key clinical situations

Perlegen focuses on clinical situations where we believe information about a patient’s genetics can significantly improve the use of existing, marketed drugs by helping doctors identify the most effective therapy for individual patients. Programs now in development are focused on these situations within women’s health and cancer, as well as cardiovascular disease. Additional work in infectious disease and other associated areas is scheduled to begin in the near future.

Committed to scientific excellence

Our genetic discovery model is robust, systematic, and repeatable. Since Perlegen’s incorporation in 2001, we have demonstrated the ability to rapidly and economically identify and validate diagnostic genetic signatures and successfully patent our inventions. Among these are a number of “foundational” patents or filings that may broadly impact the use of individual patients’ genetic variation in the practice of medicine, including:

• Genetic analysis methods, including whole genome scanning
• Key laboratory methods, including sample preparation for whole-exon capture, long-range PCR, and highly complex mixtures
• Key analytic approaches, including admixture mapping and advanced statistical analysis
• Disease predisposition or treatment response markers for a wide range of disease states.