UN members asked to back rare disease universal health coverage

Global rare disease organizations emphasized the importance of universal health coverage (UHC) for people with rare diseases during a side event to a meeting of United Nations (UN) member states to accelerate progress toward the goal of univeral coverage by 2030. The event, titled “A Blueprint for Leaving…

Enzyme study may bring insights into AADC deficiency’s causes

The AADC enzyme can undergo a process called phosphorylation at a specific molecular site to increase its activity, a study shows. These findings provide deeper insight into the functionality of this enzyme, and may help scientists to better understand the effects of certain specific mutations that cause AADC deficiency.