Meeting the needs of patients with ultrarare diseases

Patients with ultrarare diseases present unique challenges to the health care systems of developed economies that demand novel approaches, beginning with achieving a diagnosis and concluding with long-term treatment. The challenges derive from numbers. On the one hand, the rarity of the disease phenotypes means that the vast majority of ultrarare patients are never diagnosed, and for the fortunate few who are diagnosed, the journey to a genetic diagnosis is long and perilous. On the other hand, as more human genomes are sequenced, the number of these patients identified is growing logarithmically. Once patients are diagnosed, personalized medicines must be rapidly developed and delivered. Here I define the problems and propose a nonprofit model to meet the needs of some of these patients. Ultrarare patients are extraordinarily underserved.Recent focus has broadened awareness of the problem and registered impressive progress, but the progress to date is simply a beginning.n-Lorem, a nonprofit foundation, is pioneering an entirely novel approach to providing personalized antisense oligonucleotide medicines, assuring quality care, and maximizing learning.Longer-term, more holistic, system-wide solutions involving all stakeholders and applicable technologies must be developed.