Author: Brian Huxtable

Research offers clues for treating fatal neurological disorder in kids (Links to an external site)

In this slide, bright green staining shows the massive buildup of material that occurs inside brain cells when their lysosomes, the cells’ waste disposal and recycling system, are defective. This occurs in CLN1 disease, a fatal neurological disorder that affects infants and young children, because a vital lysosomal enzyme is missing. Research in animals led by Washington University in St. Louis and the Roslin Institute in Scotland shows that supplying this missing enzyme helps improve the condition.

New research in animals by scientists at Washington University School of Medicine in St. Louis and the Roslin Institute at the University of Edinburgh in Scotland suggests enzyme replacement therapy may slow brain degeneration. The Washington University researchers evaluated the therapy in mice, and researchers in Scotland evaluated the treatment in a sheep model of the disease. The findings underscore potential treatments for the genetic condition, also known as CLN1 disease.

Funding Update: April 2022

At the beginning of April we received a notice of award of a new NIH R21 grant from NINDS. This is to explore the extent of peripheral nerve disease in CLN1 mice and treat this via gene therapy. This work will be done together with long term collaborator Mark Sands (Washington University, Medicine) and Alison […]

Publications Update: April 2022

Keigo Takahashi’s review article on “Glial dysfunction and its contribution to the pathogenesis of the neuronal ceroid lipofuscinoses” was just accepted by Frontiers in Neurology. Keigo’s pre-print (below) on the characterization of Cln2 mice revealing their seizure phenotype and the pathological involvement of interneurons is also now available on BioRxiv. We are just completing another […]