3 ms·

The article doesn't seem to make any references to concrete advances. It's unsurprising that an influx of donations resulted in an increase in research grants a

The article doesn't seem to make any references to concrete advances. It's unsurprising that an influx of donations resulted in an increase in research grants and money spent, but that's not the same thing as decreased mortality, morbidity, or even breakthroughs in understanding. A lot of research money is effectively wasted so until specific evidence is provided that there was a deep impact, I just see this as a particular special interest applauding money going in their direction (potentially at the expense of other causes which could make better use of it).

Jmilin 7y ago
As a result of the funding, researchers were able to discover NEK1 - a newly tagged identify genetic factors contributing to amyotrophic lateral sclerosis (ALS). The article was published in Nature and can be found here. https://www.nature.com/articles/ng.3626 https://www.nature.com/articles/ng.3626. The discovery was a direct result of the money raised from the Ice Bucket Challenge.
- 0xfffafaCrash 7y ago
  Thanks, on p.15 of the linked RTI report[0] a number of other recent publications are also pointed out as particularly significant (seemingly based on number of citations). Unfortunately, it's hard to gauge the extent to which these are likely to result in actual medical advances as someone who does not know the domain well. Would appreciate any insight from any researchers who can break it down a bit. [0] http://www.alsa.org/assets/pdfs/RTI-Report-FINAL.pdf http://www.alsa.org/assets/pdfs/RTI-Report-FINAL.pdf
  - JamesBarney 7y ago
    We probably won't know that for a long time. The lag time from basic research to FDA approved treatment is measured in decades.
    - shpongled 7y ago
      Decades and billions and billions of dollars, plus a 90%+ failure rate.
  - Obi_Juan_Kenobi 7y ago
    > In total, we observed NEK1 risk variants in nearly 3% of ALS cases. This isn't surprising, as the days of single-locus disease discoveries are largely behind us, but this is just one small factor among many. It can hint at functional things, but mostly it's another landmark for risk-screening. > NEK1 has been linked to several cellular functions, including cilia formation, DNA-damage response, microtubule stability, neuronal morphology and axonal polarity. Our results provide new and important insights into ALS etiopathogenesis and genetic etiology. This is basically a grab-bag. I wouldn't expect any kind of applied research based on this for another grant cycle or two.
opencl 7y ago
Radicava was approved in Japan in 2015 and by the FDA in 2017 to treat ALS though presumably most of the research for it occurred long before then. It costs $145000 per year in the US and $35000 per year in Japan. It slows down the progression of the disease in a specific subset of patients (early stages of the disease with rapid progression of symptoms) which comprises approximately 7% of people with ALS. Trials among a general ALS population failed to show any efficacy. https://www.healthnewsreview.org/2017/09/facts-about-the-new-als-drug-radicava-that-youre-unlikely-to-see-in-news-stories/ https://www.healthnewsreview.org/2017/09/facts-about-the-new...

Jmilin 7y ago

As a result of the funding, researchers were able to discover NEK1 - a newly tagged identify genetic factors contributing to amyotrophic lateral sclerosis (ALS). The article was published in Nature and can be found here. https://www.nature.com/articles/ng.3626 https://www.nature.com/articles/ng.3626. The discovery was a direct result of the money raised from the Ice Bucket Challenge.

0xfffafaCrash 7y ago
Thanks, on p.15 of the linked RTI report[0] a number of other recent publications are also pointed out as particularly significant (seemingly based on number of citations). Unfortunately, it's hard to gauge the extent to which these are likely to result in actual medical advances as someone who does not know the domain well. Would appreciate any insight from any researchers who can break it down a bit. [0] http://www.alsa.org/assets/pdfs/RTI-Report-FINAL.pdf http://www.alsa.org/assets/pdfs/RTI-Report-FINAL.pdf
- JamesBarney 7y ago
  We probably won't know that for a long time. The lag time from basic research to FDA approved treatment is measured in decades.
  - shpongled 7y ago
    Decades and billions and billions of dollars, plus a 90%+ failure rate.
- Obi_Juan_Kenobi 7y ago
  > In total, we observed NEK1 risk variants in nearly 3% of ALS cases. This isn't surprising, as the days of single-locus disease discoveries are largely behind us, but this is just one small factor among many. It can hint at functional things, but mostly it's another landmark for risk-screening. > NEK1 has been linked to several cellular functions, including cilia formation, DNA-damage response, microtubule stability, neuronal morphology and axonal polarity. Our results provide new and important insights into ALS etiopathogenesis and genetic etiology. This is basically a grab-bag. I wouldn't expect any kind of applied research based on this for another grant cycle or two.

opencl 7y ago

Radicava was approved in Japan in 2015 and by the FDA in 2017 to treat ALS though presumably most of the research for it occurred long before then. It costs $145000 per year in the US and $35000 per year in Japan. It slows down the progression of the disease in a specific subset of patients (early stages of the disease with rapid progression of symptoms) which comprises approximately 7% of people with ALS. Trials among a general ALS population failed to show any efficacy. https://www.healthnewsreview.org/2017/09/facts-about-the-new-als-drug-radicava-that-youre-unlikely-to-see-in-news-stories/ https://www.healthnewsreview.org/2017/09/facts-about-the-new...