A set of small molecules called microRNA (miRNA), found in a recent study, show potential both as biomarkers and as therapeutic targets of Gaucher disease. Determining differences in the levels of these miRNA among Gaucher patients could lead to insights into disease mechanisms and to new therapeutic targets, as…
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…
The U.S. Food and Drug Administration (FDA) has given fast track designation to PR001, Prevail Therapeutics‘ investigational gene therapy for neuronopathic Gaucher disease. The FDA previously granted the therapy — now in an enrolling clinical trial in the U.S. — orphan drug and rare pediatric disease status; all aim…
Neuronopathic Gaucher disease (nGD) induces an immune response that protects against viral infections in the brain, according to an early study in animals. Understanding how this happens and whether GD patients are more resistant to infection needs further studies, scientists said. The study, “Innate immune response…
Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme “A Glimmer of Hope,” the competition is a means to “visually express the hope that exists for people affected by…
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 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.
The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to Prevail Therapeutics‘ investigational therapy PR001 for the treatment of Gaucher disease. In addition, the regulatory agency granted this potential gene therapy rare pediatric disease designation specifically for treating neuronopathic Gaucher, which…