Pharmacogenomics of Rare and Monogenic Disorders

The rare monogenic diseases provide the most clearly evident examples of pathology resulting from a single genetic lesion. As such, they are in some sense the “low hanging fruit” for the application of pharmacogenomic therapeutic approaches. These quite often serious diseases, while still not fully understood, have seen a revolution in both disease classification as well as therapeutic approaches. Advances in genomic understanding of rare diseases both challenge traditional disease classifications as well as reveal, in many instances, a complex interplay of the host genome with its environment. Therapeutic approaches initially developed as “orphan” products, including molecular chaperones, agents to promote or stop codon skipping, various gene therapy techniques, substrate reduction therapies, and other novel therapies, have all either recently seen market approval or show clear promise as potential future treatment approaches.