The neuronal ceroid lipofuscinoses (NCLs) are a group of rare genetic diseases characterised clinically by the progressive deterioration of mental, motor and visual functions and histopathologically by the intracellular accumulation of autofluorescent lipopigment - ceroid - in affected tissues. The NCLs are clinically and genetically heterogeneous and more than 14 genetically distinct NCL subtypes have been described to date (CLN1-CLN14) [1]. Computer-based and bioinformatics analyses have contributed to improved understanding of the NCLs, from linkage studies to predicting disease protein topology and mutation pathogenicity. This review will summarise the bioinformatic advances that have occurred in the NCL field over recent years, and look towards future contributions. In this review we will chronologically summarise work which has led over the years to identification of NCL genes, and outline the potential of novel genomic techniques and related bioinformatic approaches for further genetic dissection and diagnosis of NCLs.