Does the recent breakthrough in ALS suggest we should be looking for more opportunities for Ice Bucket Challenges?

Could this study have been done without Ice Bucket Challenge funding? Based on evidence from the study itself, it seems safe to infer yes.

The science behind the ALS-Ice Bucket Challenge news reports: On July 25, 2016, the scientific journal Nature Genetics published a letter that identified variants of a gene linked to Amyotrophic lateral sclerosis / Motor neuron disease (1). With ~95 authors from ~12 countries, this large-scale study suggests loss-of-function risk variants in the NEK1 gene may be present in ~3% of European and European-American ALS/MND cases. In other words, these researchers may or may not have identified something that may or may not help develop a Rx at some time in the future, a Rx by the way that would be of relevance to less than 3 out of 100 ALS/MND patients of European ancestry. Thus, obviously a valuable thread to help unravel the mystery of ALS/MND but not exactly a breakthrough.

Problems With News Reports About This Study: Misleading & Inaccurate

Looks like another case of excessive media over-reach. Comparing three news reports about this study, one in Endgadget (The internet's Ice Bucket Challenge funded a medical discovery), another in the Guardian (Remember the ice bucket challenge? It just funded an ALS breakthrough) and a third in the BBC (Ice Bucket Challenge funds gene discovery in ALS (MND) research - BBC News), with information from the study itself shows all three news reports had the same two problems,

• One, they erroneously imply money raised by the Ice Bucket Challenge solely funded this research. Something so far from being true as to be utterly ludicrous and outright misleading.
• The study itself clearly shows it was funded quite conventionally by government agencies and foundations, and in addition, by Project MinE, which was funded by the Ice Bucket Challenge.
• So many different entities funded it, its Acknowledgments section itself occupies ~14% of the total paper length.
• Funders listed include the US National Institutes of Health (NIH)/National Institute of Neurological Disorders and Stroke (NINDS), the American ALS Association, the Motor Neuron Disease (MND) Association, the Angel Fund, Project ALS/P2ALS, the ALS Therapy Alliance, The Netherlands ALS Foundation (Project MinE), ALS liga Belgium, Suna and Inan Kirac Foundation as well as government agencies in Australia, Belgium, Germany, Italy, Spain, the Netherlands, the UK.
• Project MinE supported the study's 2nd last and Corresponding author, Jan H. Veldink, and his colleague Leonard H van den Berg, both at the Department of Neurology Brain Centre, Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Utrecht, the Netherlands. This is one of forty-four academic affiliations listed in this study. Eight of the ~95 authors listed in this study are affiliated with this Centre.
• Two, they fail to mention something the study itself rightfully points out, that it builds on two previous reports that already linked Nek1 variants to ALS/MND risk (2, 3).

So yet another example, if ever we needed one more, to not take news media reports about a scientific article at face value. Given the number of scientific papers published every day, an obvious question is why this one stoked so much disproportionate media attention. Some kind of PR blitz likely worked behind the scenes. Too bad the actual data don't support its spin. Problem is this answer's unlikely to change that. Like a genie freed from the bottle, the spin that the Ice Bucket Challenge 'worked' is already the established media narrative. Another example of the nexus between media organizations and PR campaigns motivated on behalf of specific science stories. And the truth? That doesn't even get the chance to make it past the starting gun.

Bottomline, this study didn't depend solely on the Ice Bucket Challenge funding and could have been done without it.

Bibliography

1. Kenna, Kevin P., et al. "NEK1 variants confer susceptibility to amyotrophic lateral sclerosis." Nature Genetics (2016).

2. Cirulli, Elizabeth T., et al. "Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways." Science 347.6229 (2015): 1436-1441. http://www.ncbi.nlm.nih.gov/pmc/...

3. Brenner, David, et al. "NEK1 mutations in familial amyotrophic lateral sclerosis." Brain 139.5 (2016): e28-e28. https://www.researchgate.net/pro...

https://www.quora.com/Does-the-recent-breakthrough-in-ALS-suggest-we-should-be-looking-for-more-opportunities-for-Ice-Bucket-Challenges/answer/Tirumalai-Kamala