3 ms·

As a result of the funding, researchers were able to discover NEK1 - a newly tagged identify genetic factors contributing to amyotrophic lateral sclerosis (ALS)

by 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.

by Jmilin 7y ago

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.