Rare disease day 29 Feb 2012

I cannot let today go by without mention. Its Rare Disease Day so please do all you can to raise awareness of the 1000’s of diseases and organizations that barely get a look in besides the blockbuster diseases.

Its also time to assess my own efforts as I laid out some goals in 2011.

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

+ I am currently writing an STTR for Jonas Just Begun.

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

+ Contributed to a white paper with a collaborative Canadian research group.

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

+ drafted an edited book outline with a co-author for Wiley.

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

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

+ started virtual screen for MPS IIIC chaperones with collaborator Alexey Pshezhetsky.

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

7. Lobby funding agencies to support rare disease research.

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

+ with Alex Clark developed ODDT to raise awareness for rare diseases and to connect scientists and patients with data.

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

+ I plan to do this as part of the grant described in 1. above.

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

+ Submitted a perspective to a journal in Dec 2011.

As some of these documents and projects take off I will provide more information. I am doing my part outside of my main projects, perhaps others can too and in so doing accelerate progress and increase visibility for these diseases.


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3 pings

  1. Greta Beekhuis says:

    I am at RDD@NIH, wish you were here to tweet!

    1. sean says:

      Jill Wood from Jonas Just Begun is in DC for all the events so looking forward to her blog

  2. Greta Beekhuis says:

    Francis Collins just *announced* the GTR 😉

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