Keeping up with genetic discoveries in amyotrophic lateral sclerosis: The ALSoD and ALSGene databases

Abstract

Amyotrophic lateral sclerosis (ALS) is a genetically heterogeneous disorder that shows a characteristic dichotomy of familial forms typically displaying Mendelian inheritance patterns, and sporadic ALS showing no or less obvious familial aggregation. While the former is caused by rare, highly penetrant, and pathogenic mutations, risk for sporadic ALS is probably the result of the combined effects of common polymorphisms with minor to moderate effect sizes. Owing to recent advances in high-throughput genotyping and sequencing technologies, genetic research in both fields is evolving at a rapidly increasing pace making it more and more difficult to follow and evaluate the most significant progress in the field. To alleviate this problem, our groups have created dedicated and freely available online databases, ALSoD (http://alsod.iop.kcl.ac.uk/) and ALSGene (http://www.alsgene.org), which provide systematic and in-depth qualitative and quantitative overviews of genetic research in both familial and sporadic ALS. This review briefly introduces the background and main features of both databases and provides an overview of the currently most compelling genetic findings in ALS derived from analyses using these resources.

Key words::

• ALSoD
• ALSGene
• amyotrophic lateral sclerosis
• ALS
• database
• genetic
• UNC13A

Acknowledgements

ALSoD is a joint project of the World Federation of Neurology (WFN) and European Network for the Cure ALS (ENCALS). We are especially grateful for the long-standing and continued funding of this project from the ALS Association and the MND Association of Great Britain and Northern Ireland. We also thank ALS Canada, MNDA Iceland and the ALS Therapy Alliance. The research leading to these results has received funding from the European Community's Health Seventh Framework Programme FP7/2007-2013) under grant agreement n° 259867. We also thank the NIHR Biomedical Research Centre for Mental Health. We thank Aleks Radunovic, Nigel Leigh, and Ian Gowrie, who originally conceived ALSoD, and the ALSoD team, especially Peter Andersen and John Powell.

ALSGene has been funded by Prize4Life as a critical functionality of their ALS Forum research portal (www.ResearchALS.org), created to serve as a unified source of breaking ALS research news and valuable tools for the ALS research community. It has been developed in close collaboration with the Alzheimer Research Forum. We thank Gabriele Strobel, Colin Knep and Paula Noyes for the online adaptation and maintenance of ALSGene. We further thank the ALSGene database team, especially Ute Zauft, Esther Meissner, Johannes Roehr, Brit-Maren Schjeide, and Leif Schjeide.

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.