The cover. Portrait of a lady, probably a member of the Cromwell family.

摘要

Gahl explained that the UDP has now received more than 6000 inquiries and 2000 sets of medical records. Patients who haven't yet received a sufficient workup are usually rejected, and rejection letters may include suggestions on obtaining a diagnosis or recommendations for management of the disorder. Cases submitted to the program are evaluated to determine whether further clinical or laboratory testing at NIH may yield a path forward. Many of the individuals admitted to die program have had ultrarare conditions, which affect fewer than 1 in 200 000 individuals, he explained. Priority is given to conditions with a likely genetic cause.