News

NORD’s 6th ‘State Report Card’ Notes Progress, Raises Concerns

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

More MOR1 May Contribute to Psychiatric, Motor Symptoms

Higher-than-normal levels of mu-opioid receptor 1 (MOR1) in the striatum — a brain region particularly affected in Huntington’s disease — may contribute to both early psychiatric symptoms and late motor difficulties seen in Huntington’s patients, according to a study in a mouse model of the disease. The data also…

NORD’s Caregiver Respite Program Continues Through Pandemic

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…

Study Links Cognitive Impairment to Reduced Gray Matter Volume

Based on MRI scans, Huntington’s disease patients with major cognitive impairments have reduced gray matter volume and a thinner brain cortex than those without cognitive problems, a study has demonstrated.  Major cognitive decline was not associated with CAG repeat length, age, or education, suggesting additional…

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…