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The Batten Disease Support and Research Association (BDSRA) Australia has ad 2020 Batten Disease Research Fellowship recipients in Australia and New Zealand.

The aim of the program is to support research into the mechanisms of the disease, new therapies, improvements in the diagnosis, treatment and management of Batten’s disease.

In the 2020 edition of the grants program, the project led by Anthony Cook, PhD, University of Tasmania, received a research grant of AU $ 49,400 (approximately US $ 38,300).

The researchers used advanced techniques in stem cell biology and gene editing technology to develop a new model of the disease based on human cells. Previous research has indicated that in this model, cells with variants in the CLN3 gene – the defective gene in juvenile Batten disease – changes the way nerve cells communicate.

The objective of the project is to screen more than 350 candidate molecules and identify potential new therapies for Batten disease caused by variants of the CLN3 gene and understand how these variants affect nerve cells.

Another team, led by researcher Alex Hewitt, PhD, of the Menzies Institute for Medical Research at the University of Tasmania, received a research grant of AU $ 50,000 (approximately $ 38,730) to determine whether a new enzyme, designed using CRISPR / Cas9 genome editing technology, is capable of correcting a CLN2 genetic variant – responsible for late infantile Batten disease – in a preclinical model of the disease.

This type of gene editing approach, which can effect tailor-made genetic changes in an organism’s genome, has the potential to be disease-modifying therapy for Batten.

Another project, led by Nadia Mitchell, PhD, at Lincoln University, New Zealand, received a research grant of AU $ 56,440 (approximately $ 43,720). Researchers in Mitchell’s lab have developed well-established sheep models of Batten’s CLN5 and CLN6 disease. Following positive results from a single administration of combined gene therapy directed to the brain and eye at different stages of CLN5 disease in these animal models, the team is preparing to submit a new drug request to the Food and Drug Administration of the United States, with the aim of moving to a clinical trial next year.

This project will test equivalent doses and routes of administration in sheep. The goal is to understand the changes that occur in the brain, eyes and spinal cord of affected sheep, and translate them to humans.

A research project led by Ronald Clarke, PhD, and Alvaro Garcia, PhD, of the University of Technology Sydney, received a research grant of AU $ 21,256 (approximately $ 16,465) to study the effects of fatty molecules in the cell membrane surrounding the CLN3 protein. . This protein is located in an intracellular membrane. Certain molecules – similar in structure and chemical composition to cholesterol – have already been shown to exert a protective effect in animal models of CLN3 disease across the cell membrane.

As such, the researchers hypothesize that these molecules exert their effect through the membrane: either the membrane which directly surrounds the CLN3 protein, or a membrane located elsewhere in the cell. The team wants to test their hypothesis and find out which membrane properties need to be altered to alleviate disease symptoms in mouse models of CLN3 disease.

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