Follow up on 2012 rare disease goals and plans for more open science in 2013

Its been a very collaborative year. Last year I set out some goals for myself in 2012 on the rare disease front and I figured I should take stock. So here are the goals and what has happened.

1. Write grants to fund rare disease researchers to develop products.

+ Written an STTR for Phoenix Next (and resubmission) and helped BioGan write one too.

2. Write papers and give presentations about rare disease to draw attention to urgency.

+ One collaborative paper and some talks   etc

3. Organize special journal issues or edit a book on rare disease research.

+ produced an edited book outline with a co-author – put on ice due to workload – (anyone interested in helping out or publishing it – please contact me)..

4. Leverage my collaborative network to do preclinical research for rare diseases.

+See 5..also I have reached out to other researchers for help on some topics for rare diseases and they have been very responses – so thank you all!

5. Use virtual screening to narrow down FDA and GRAS (and for that matter any) molecules to be repurposed for rare diseases.

+ done virtual screen for MPS IIIC chaperones with collaborator Alexey Pshezhetsky  identified an active compound tested in vitro – hopefully more to come.

6. Use computational models to predict potential toxicities for compounds for rare diseases.

+ Not done yet.. but see 5..

7. Lobby funding agencies to support rare disease research.

+ I have blogged here and spoken about rare diseases all year and at partnering for cures (see 2) I mentioned the difficulties in getting STTR for rare diseases because reviewers do not think there is a big enough market for a treatment. Also I think its important that parent and patient advocates are seen as valued applicants. So much still needs to be done here.

8. Leverage as much open software, data and free resources as possible.

+ with Alex Clark developed Opne drug Discovery Teams..ODDT to raise awareness for rare diseases and to connect scientists and patients with data. ..And with Alex and Antony Williams (ChemConnector) at the RSC we have published on it and done many slides and talks..

9. I am maximally collaborative, results driven, willing to work with no IP, and willing to become extensively socially networked.

+ Been involved more in developing Phoenix Nest (getting a Board of Directors together with Jill Wood)  and BioGan – opportunity to be explored in bringing several such groups together to pool resources..to be continued in 2013..watch this space.

10. Create a template for more disruptive pharmaceutical research using rare diseases.

+ Published a paper on disruption and also rules for sharing models and data.

So what about 2013??

After seeing the challenges of parent and patient advocates trying to access published papers during this year (at great cost), my goal in 2013 is to publish everything openly (if I can). I am sure this will see me try to put work into places like PeerJ and PLOS..Of course I have plenty of work from this year which is already submitted or in press so will have to draw the line at everything submitted in 2013. I know I do a fair bit of reviewing and editing for publishers and I do not think there is a conflict here. I want to try the experiment..I may not publish as much becuase of the cost, but lets see what happens. I will obviously have to convince collaborators too (any tips on the best way to approach this?).

I am really looking forward to Science Online 2013 at which we hope to further discuss how scientists can do more open science, how we can leverage tools like ODDT etc.

2013 was a “mobile appifying year” with ODDT and TB mobile so I am really keen to see how Alex and I can build on this – the journey is just beginning.

I am sure I will think of more to do over the holidays, but needless to say I owe a big thank you to all the collaborators and the rare disease families that are a true inspiration. The clock is ticking and I know there is not enough time to do everthing, but we have to try. I hope I can help to move things along.


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  1. Graham Steel says:

    Excellent post, Sean.

    As a Patient Advocate involved in rare diseases, I very much appreciate posts like this. If there’s anything I can do to help, please do hesitate to get in touch.

    I certainly like making new connections… http://blog.patientslikeme.com/2012/07/09/the-importance-of-open-access-an-interview-with-patient-advocate-graham-steel/

    I applaud your stance on Open Access !!



  2. Graham Steel says:

    I did of course mean “please do not hesitate to get in touch”, rather than please do hesitate to get in touch. Oops

  3. sean says:

    Happy New year..I hope to blog more in 2013.

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