Scientific News will return in August
OrphaNews will present the latest scientific news relating to rare diseases in the next edition, which will be released in August. Until then, enjoy the summer break!
Summer break
Patient management and therapy
New Guidelines to Help Diagnose, Manage Rare Endocrine Disorders
International guidelines on "diagnosis and management of pseudohypoparathyroidism and related disorders" have been published for the first time in Nature Reviews Endocrinology. These guidelines, composed of 67 recommendations, outline the key criteria for screening and diagnosing these rare disorders. In the paper, the experts also make an urgent call "to gather forces and cohorts of patients to implement registries, to improve knowledge on the natural history of the diseases, to better understand the bridges between these clinically heterogeneous but still closely related diseases and, moreover, to develop new therapies."