Author Archives: Joana Carvalho

UK Rare Diseases Framework Opens to Improve Diagnosis, Access to Care

U.K. Rare Diseases Framework, a government-led approach to raising national awareness of rare disorders, accelerating  diagnoses, and improving patient care and treatment, is now in practice. This  framework, signed by all four countries take make up the U.K. — England, Scotland, Wales and Northern Ireland — builds on the success…

Natural History Study of Huntington’s Fully Enrolled, Triplet Says

Triplet Therapeutics announced it has completed patient enrollment in SHIELD HD, a natural history study documenting the course of Huntington’s in the absence of treatment and associated disease biomarkers. With more than 60 people taking part, SHIELD HD (NCT04406636) has attained and exceeded its target enrollment goal ahead…

Mutations Linked to Huntington’s Increase Nerve Cells’ Resistance to High Levels of Manganese, Study Finds

Mutations associated with Huntington’s disease increase nerve cells’ resistance to high levels of manganese, according to a recent study. The results of the study, “Huntington’s disease associated resistance to Mn neurotoxicity is neurodevelopmental stage and neuronal lineage dependent,” were published in NeuroToxicology. Manganese (Mn) is…