
Submitted by Penny Peck on Wed, 19/03/2025 - 14:28
Congratulations to Kasparas Petkevicius, who has been awarded a grant of $50,000 from the Batten Disease Global Research Initiative, which will fund a research project “Exploring the efficacy of bis(monoacylglycero)phosphate synthesis pathway intermediates in treating CLN8 Batten disease in preclinical models.”
Batten disease, commonly known as neuronal ceroid lipofuscinoses (NCLs), is a group of rare, inherited neurodegenerative disorders primarily affecting children. Caused by genetic mutations that disrupt the function of lysosomes and lead to the accumulation of toxic waste material in cells, this progressive condition results in symptoms such as vision loss, seizures, cognitive decline, loss of speech and language, severe motor impairment, and premature death. There are 13 forms of Batten disease, classified according to the affected gene (CLN1 to CLN14 disease, there is no CLN9 gene). While there is no cure, ongoing research into gene-based therapies, enzyme replacement, and small-molecule treatments offers hope for future disease-modifying therapies.