The roots of rarity

Pfizer Inc. is expanding its rare disease development toolkit to include technologies that act upstream of protein expression to treat the root cause of disease, with an emphasis on adeno-associated viral vectors to correct loss-of-function mutations.

Pfizer launched its rare disease research unit in 2010 to coordinate and build on the company's R&D in monogenetic disorders. Because each disease is driven by a single gene defect, but different monogenetic diseases are driven by targets with very different characteristics, unit SVP and CSO Kevin Lee told BioCentury the group has spent the past two years scrutinizing technologies that may be able to correct a disease at a genetic or protein production level...