News

Batten disease-causing mutations may lead to dysfunction of synapses, the structures that nerve cells use to connect with each other. That’s according to data reported in “Transmembrane Batten Disease Proteins Interact With a Shared Network of Vesicle Sorting Proteins, Impacting Their Synaptic Enrichment,” a new study…

Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world. But a new analysis shows there are as many as 10,867 rare diseases globally. And that…

A targeted epilepsy genetic testing program enabled more children to receive a diagnosis of ceroid lipofuscinosis type 2 disease (CLN2) — and in less than half the time it typically takes, a study reported. In fact, children in the testing program with CLN2 disease were diagnosed, on average, less…

Two dozen new mutations in the CLN6 gene were identified in nearly 100 people, mostly from the Middle East and North Africa, with CLN6 Batten disease, a study shows. These findings “confirm the genetic and ethnic [variability] of CLN6 disease,” and are expected to “raise awareness for CLN6 disease and…

The number of activated microglia — the brain’s resident immune cells — are significantly increased by the time seizures start to occur in a mouse model of infantile Batten disease, also known as CLN1 disease, a study shows. Suppressing P2X7R, a receptor protein mainly found at the surface of…

The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in Cleveland, Ohio. The event, which brings together the rare disease community, will take place at the InterContinental Cleveland Conference…

From participating in a virtual 5k to sharing personal stories, supporters are set to mark International Batten Disease Awareness Day, observed annually on June 9. The goal of the global event is to raise awareness among the general public as well as legislators, industry representatives, public authorities, researchers, and healthcare…

For children with Batten disease, some behavioral and emotional challenges are a response to difficulties brought on by the inherited disorder, a new study highlights. While the researchers emphasized that all children with Batten react to the disease in their own unique way, they offered some strategies that may…

An inflammatory environment driven by brain cells called microglia may act to prevent the brain from repairing itself in Batten disease, according to a new study done in sheep chimeras. The study, “Aggregation chimeras provide evidence of in vivo intercellular correction in ovine CLN6 neuronal ceroid…

A 13-year-old girl experiencing unexplained seizures and no other apparent symptoms was ultimately diagnosed with juvenile Batten disease, according to a recent report. This “is probably the first case report of [juvenile Batten disease] with only seizures as presentation,” the researchers wrote. Titled “Batten’s Disease: A…