SequenceME genetic study - from Oxford Nanopore Technologies, the University of Edinburgh and Action for ME

Just to clarify that I was talking about medical research overall rather than just for ME.

The Association of Medical Research Charities say their members spend £1.7 billion a year on research in the UK. And lots of charities that support research aren’t members (last time I checked none of the UK ME charities were members).

 

Good to see some media coverage on this: The medical breakthroughs to watch out for in 2025

 

Web archive link, for anybody who wants to avoid agreeing to cookies, https://web.archive.org/web/2024123...dical-breakthroughs-2025-look-forward-3431785

Looks like it is just a reproduction of the press release, but good to see it highlighted.

 

What sort of work does AfME do in this context?

 

All the non-science stuff. In this case bringing the other partners together in this collaboration and working on various options for potential funding, both institutional and philanthropic.

 

As an additional note, I've had it fed back to me that those working on funding possibilities for this project have found the suggestions made in this thread to be useful, so thank you all for those.

 

Another idea is Vitalik Buterin.. he has funded a lot of long Covid projects. Don’t know if he’d do anything for ME. His foundation — Balvi — says it’s no longer accepting applications though.

 

I contacted AfME to ask if fundraisers on platforms such as Justgiving and Facebook can be restricted to supporting their research work. Ruth Richardson, Director of Fundraising and Development replied:

"We can certainly restrict to Research any income raised via fundraising platforms such as Justgiving or Facebook. In order to ensure the restriction is applied we just need to be made aware of this via an email to fundraising@actionforme.org.uk
If a link to the fundraising page can be included in the email that would be very helpful too."​

 

Just putting this here in case useful tool for the researchers looking at DecodeME data. https://twitter.com/user/status/1892243493445050606


https://x.com/patrickc/status/1892250606846558693?s=46

https://arcinstitute.org/manuscripts/Evo2

 

The abstract says (broken up for readability):

Standard genome-wide association studies (GWAS) and rare variant burden tests are essential tools for identifying trait-relevant genes. Although these methods are conceptually similar, we show by analyzing association studies of 209 quantitative traits in the UK Biobank that they systematically prioritize different genes.

This raises the question of how genes should ideally be prioritized. We propose two prioritization criteria: 1) trait importance — how much a gene quantitatively affects a trait; and 2) trait specificity — a gene’s importance for the trait under study relative to its importance across all traits.

We find that GWAS prioritize genes near trait-specific variants, while burden tests prioritize trait-specific genes. Because non-coding variants can be context specific, GWAS can prioritize highly pleiotropic genes, while burden tests generally cannot. Both study designs are also affected by distinct trait-irrelevant factors, complicating their interpretation.

Our results illustrate that burden tests and GWAS reveal different aspects of trait biology and suggest ways to improve their interpretation and usage.​

Any chance anyone can do a 'for dummies' summary of that? I'm surprised that a GWAS isn't just a sketchier version of a WGS study.

 

I think this 2023 preprint maybe tells you but I don't understand it.

But look at that DNA go, in this video! As a 'naked' half of the strand goes through the nanopore, which has an electrical charge, each DNA letter (A, T, C or G) gives a different electrical signal of disruption of the field that can be read in sequence (I think).

https://www.youtube.com/watch?v=RcP85JHLmnI

 

Says this:

With the largest machine, you can run ~5,000 sequences a year. I assume the prep can be done while you run another batch, so it doesn’t add time to the processing duration. I have no idea which machines they use and how many.

Source

 

The Advanced Grant from EU is 2.5M, with an additional 1M in setup costs. Could be put together with other funding. https://erc.europa.eu/apply-grant/advanced-grant

Also, have found that Vinod Khosla reads emails and has someone respond, so do hope team request funding from him.