The BDFA has provided funds to Dr Sara Mole of UCL for her research into CLN3. She uses a simple yeast model and transfers the significant results into mammalian cells.

The project "Towards the molecular basis of disease arising from mutations in CLN3” led to an exciting research breakthrough and a new way of thinking about JNCL when it was discovered that the 1 kb mutation that almost all patients with JNCL have abolishes only part of the function of the CLN3 gene. This changes the way scientists and clinicians think about JNCL and the function of the CLN3 gene, and is significant because it has given the scientists new ideas to explore for the development of therapy.

A current project “Investigating the large vacuole/lysosome phenotype associated with loss of Btn1p/CLN3 function” will attempt to find out why lysosome size gets bigger when CLN3 cannot function. Understanding how or why CLN3 is needed in the cells to maintain correct lysosome size will significantly contribute to our knowledge of the role of this gene within the cell, and may even identify new targets for therapy.

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