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The Batten Disease Support and Research Association (BDSRA) Australia has announced the winners of the 2020 Batten Disease Research Grants program in Australia and New Zealand.

The goal of the program is to support research into disease mechanisms, new therapies, improved diagnosis, treatment and management of Batten disease.

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

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

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

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

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

Another project, led by Nadia Mitchell, PhD, at Lincoln University, New Zealand, received a research grant of 56,440 Australian dollars (about $43,720). Researchers in Mitchell’s lab have developed well-established sheep models of Batten disease CLN5 and CLN6. Following positive results from a single administration of combined gene therapy directed at the brain and eye at different stages of CLN5 disease in these animal models, the team is preparing to submit a new drug application to the Food and US Drug Administration, 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, has received a research grant of 21,256 Australian dollars (about $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 through the cell membrane.

Thus, the researchers are hypothesizing that these molecules exert their effect through the membrane: either the membrane that 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.