Researchers found, in a new mouse model for Batten disease, that defective synapses in specific brain regions may be the cause of disease symptoms. The study “Defective synaptic transmission causes disease signs in a mouse model of juvenile neuronal ceroid lipofuscinosis,” was published in the journal eLIFE. Batten…
News
Abnormal processing of the trace element manganese may impact the onset or progression of Batten disease, according to a researcher at the University of Melbourne in Australia. In a review titled “Manganese in manganism, Parkinson’s disease, Huntington’s disease, amyotrophic lateral sclerosis, and Batten disease: A narrative review,”…
People with Batten disease would likely benefit from early educational interventions that allow them to make up for their lost eyesight and speech with alternative communication skills — even before they are actually needed — according to a report from the Juvenile Neuronal Ceroid Lipofuscinosis and Education Project (2014 – 2017).
The National Organization for Rare Disorders (NORD) says it’s “disappointed and dismayed” after the House of Representatives voted 227-205 last week to repeal the Orphan Drug Tax Credit as part of a U.S. tax reform package. A similar package before the Senate Finance Committee does not repeal the credit…
Batten disease may be caused by the loss of synaptic connections between neurons in the brain, according to a study that detailed abnormalities in the brains of mice, lacking the Cln3 gene. These mice also lacked a certain type of neuron crucial for building neural networks. Researchers at Jena University…
WASHINGTON — As the Batten Disease Support and Research Association celebrates its 30th anniversary, the group’s executive director says scientists are edging ever closer to treatments for the incurable genetic disorder. Margie Frazier said the organization she’s headed for five years is the only one that represents all 14 forms…
The Beyond Batten Disease Foundation has started a Be A Hero campaign to raise $1 million and public awareness about the form of the disease that strikes youngsters. Craig and Charlotte Benson founded the organization in 2008 after doctors diagnosed their then-6-year-old daughter Christiane with juvenile Batten disease. Now 15,…
Children’s National Health System no longer treats just kids. Its Rare Disease Institute, launched in April 2017, has partnered with the National Organization for Rare Disorders (NORD) to become the first of many U.S. “centers of excellence” to look after patients with rare diseases, regardless of age. The effort…
Glial cell function is impaired in the juvenile form of Batten disease, leading to nerve cell loss, a mouse study has found. The study, “Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons,” was appeared in the journal Acta Neuropathologica Communications. Glial cells,…
More therapies are now available for the 30 million or so people with rare diseases in the U.S. than ever before, and millions of dollars are being invested in clinical studies that will test new ways of evaluating — and advancing — potential treatments, including the use of natural history…
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