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…
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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…
The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…
A teenage boy with a history of parkinsonism was diagnosed with juvenile-onset Huntington’s disease (HD) using high-sensitivity positron emission tomography imaging, known as a PET scan, as described in a recent case study. The study highlights the importance of using appropriate…
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…
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…
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…
The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual Living Rare, Living Stronger NORD Patient and Family Forum. The interactive, patient-focused forum will be held online June 26-27. The deadline to apply for…
Note: This story was updated Jan. 14, 2021, to note that pridopidine is no longer called Huntexil. Treatment with pridopidine can slow the decline in total functional capacity in people with Huntington’s disease, a new analysis of clinical trial data indicate. The findings were published in the Journal…
The Huntington’s Disease Association of Ireland (HDAI) is spreading the word about a new documentary that tells the improbable story of Huntington’s disease (HD) families and their cross-continental journey to a Huntington’s gathering that included a meeting with Pope Francis. The recently released “Dancing at the Vatican” is…
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