Forest Ray PhD,  —

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.

Artificial intelligence (AI) can predict disease progression using blood samples, a first long-term study of the molecular changes underlying neurodegeneration reports. Scientists at McGill University trained an AI algorithm to analyze blood and post-mortem brain tissue from 1,969 people with Alzheimer’s and Huntington’s disease. From the blood…

Huntington’s patients who were treated with the compound WVE-120102 showed a statistically significant drop in mutant huntingtin protein (HTT) in their cerebrospinal fluid, according to a recent Phase 1b/2a clinical trial. The compound was also found to be safe and well-tolerated. These data support the testing of higher dosages…

Abnormal development of neural tissues may precede neurodegeneration in early-onset juvenile forms of Huntington’s disease, a recent study has found. Researchers also showed how targeting the cellular pathway involved in this process might be an effective strategy to restore normal neural development. Their study, “Expanded huntingtin CAG…