Molecular pathology selected abstracts
Personalized oligonucleotide therapy for treatment of a rare genetic disease
December 2019—A variety of molecular diagnostic laboratory tools are available to diagnose diseases caused by mutations in the human genome. However, few treatments are available to correct the underlying pathophysiology driven by these mutations. This is due, in part, to pharmaceutical companies’ inability to justify, from a business perspective, the expense and time necessary to develop and obtain FDA approval for novel therapies that benefit only a small number of patients.