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Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

No significant safety concerns were found in the first four patients participating in a Phase 1/2 trial assessing the safety and efficacy of uniQure’s AMT-130, an experimental gene therapy for Huntington’s disease. This…

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

The British Psychological Society has released evidence-based recommendations for health professionals managing the psychological health of people with Huntington’s disease and other neurodegenerative disorders. Its document noted the lack of research on psychological interventions and the poor access to specialized mental health services for these patient groups, highlighting an urgent…

Note: This story was updated Feb. 9, 2021, to clarify details surrounding the grant Chronic Care Collaborative received from Adira.  Greg Smiley’s world changed abruptly in 2013. He was racing down a mountain road on an outback cycling trip in South Africa, when he hit an obstruction in the road…

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…

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…