X-Nico

5 unusual facts about Batten disease


Batten disease

In June 1987, a Phase I clinical trial was launched at Weill Medical College of Cornell University to study a gene therapy method for treatment of the signs and symptoms of late infantile neuronal ceroid lipofuscinosis (LINCL).

At least twenty genes have been identified in association with Batten disease, but juvenile NCL, the most prevalent form of Batten disease, has been linked to mutations in the CLN3 gene.

CLN3

Mutations in this gene, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease, also known as Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) or Juvenile Batten disease.

Cysteamine

DR Cysteamine is also being investigated as a treatment for cystinosis, Batten disease, and non-alcoholic steatohepatitis.

Darko Miličić

In 2010, Miličić offered to pay for a trip and treatment in China for five children with Batten disease.


Jan Mohr

Together with Hans Eiberg he established Copenhagen Family Bank in 1972, a store of DNA samples, comprising about 1000 large Danish families as a basis for a Resource Center for Linkage analysis, RC-LINK, to study also familial diseases such as cystic fibrosis and Batten disease, both of which are among diseases mapped at the center.


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