A Genetic Lottery - a Column by Becky Field

Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…

The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…

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 Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. Survey questions cover a patient’s physical and mental health, supply of treatments, and access to healthcare, among other…

The National Organization for Rare Disorders (NORD) has opened a financial assistance program for people in rare disease community who are affected by the COVID-19 pandemic in the U.S. Called the NORD COVID-19 Critical Relief Program, the effort will provide up to $1,000 annually to those eligible to…

Exercise and physical activity may benefit patients with Huntington’s disease (HD), a new review study shows. The study, “Physical Therapy and Exercise Interventions in Huntington’s Disease: A Mixed Methods Systematic Review,” appeared in the Journal of Huntington’s Disease. Significant research shows that exercise and physical therapy improve the…

This week marks the launch of the “7,000 Mile Rare Movement,” a nationwide effort to raise money for research into the 7,000 known rare diseases that afflict at least 30 million Americans. The campaign kicks off Feb. 1 and culminates with Rare Disease Day on Feb. 28. Organized by…

Neurofeedback training may increase brain connectivity in patients with Huntington’s disease, possibly improving behavior and movement abnormalities, say British researchers at University College London. Their study, “Stimulating neural plasticity with real-time fMRI neurofeedback in Huntington’s disease: A proof of concept study,” appeared in the journal Human Brain Mapping.

The European Medicines Agency (EMA) has granted orphan medicinal product designation to AMT-130, uniQure’s gene therapy candidate for the treatment of Huntington’s disease. AMT-130 is an experimental gene therapy that is being evaluated in studies designed to support an investigational new drug (IND) application with the U.S.