News

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 U.S. Food and Drug Administration (FDA) has granted orphan drug designation to a gene therapy being developed by Neurogene for the treatment of CLN7 Batten disease. This marks the second Neurogene gene therapy for Batten disease to receive orphan drug designation from the FDA this summer.

When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience. Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children…

A case report has described a rare case of a newborn diagnosed with CLN2 disease, or late infantile Batten disease, after a genetic analysis confirmed a disease-causing mutation in the TPP1 gene. The case-study, “A Case with Neonatal-onset Type 2 Neuronal Ceroid Lipofuscinosis: A Novel Mutation,” was published in the…

The University of Rochester Medical Center (URMC) hopes to parlay its new designation as an Intellectual & Developmental Disabilities Research Center (IDDRC) into scientific advances for conditions such as autism and rare disorders such as Batten disease and Rett syndrome. Bestowed by the National Institute…

The proteins CLN6 and CLN8 — which are deficient in people with two forms of Batten disease — were found to interact directly with each other, forming a functional complex in vivo, or in the body, a study discovered. …

The number of fluid-containing cellular compartments called vacuoles within immune cells could help to predict the severity of Batten disease, a new study suggests. The study, “Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity,” was published in JIMD Reports. Vacuoles are compartments…

The U.S. Food and Drug Administration (FDA) has designated Neurogene’s gene therapy, which aims to deliver a working copy of the human CLN5 gene, an orphan drug to possibly treat CLN5, a form of late-infantile Batten disease. Orphan drug status helps to encourage therapies for rare and serious diseases,…

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…

Small vesicles naturally produced by certain types of immune cells may be used as carriers to deliver TPP1 — the enzyme missing in patients with late infantile Batten disease — to the brain, a mouse study has found. If implemented in future therapies, this strategy could allow for more…