Progress in molecular biology and translational science addressing the needs of nano-rare patients

The healthcare systems in the developed economies were established primarily to address the more prevalent diseases and have been customized to support the provision of therapeutics to rare patients. However, with the ever-broader implementation of genomic sequencing, it is clear that there are significantly more disease-causing mutations in the human genome than realized and that many mutations are much rarer than current definitions of rare disease populations. Given this, I propose parsing patient populations and defining patient populations more precisely. Nano-rare patients are defined as patients having disease-causing mutations that are unique to a single patient or having a known worldwide prevalence of less than 30. These patient populations present unique challenges to healthcare systems that demand the development of novel models for delivery of therapeutics and novel, more efficient drug discovery technologies, such as antisense technology. The challenges presented by nano-rare patients, a novel non-profit model as a means of providing experimental treatments rather than the traditional commercial model, and progress in establishing a non-profit solution are discussed.