Rare diseases make it into Chemical and Engineering News – chemists can help !

I want to take some time to highlight a terrific 4 part article  “Orphans find a home” that came out today in Chemical and Engineering News by Lisa Jarvis which I think absolutely captures what I have been seeing the last few years through my interactions with several rare and ultra rare disease groups – or fighter mums as they term themselves. In full disclosure I do get a mention in the article (on the online version which has a Resaerch Kick-starter feature) as does Jill Wood, Lori Sames and Allison Moore whose foundations Jonahs Just Begun, Hannah’s Hope Fund and Hereditary Neuropathy Foundation , respectively are highlighted and with whom I volunteer in my “spare” time.

I met with Lisa at the Science Online meeting and discussed over lunch what had happened over the last few years and my interactions with Jill, Lori and Allison and how they are really making amazing strides. Lisa has put a lot of time into the article interviewing the different parent advocates, families, scientists, pharma executives, FDA regulators as well as doing research on ultra rare diseases such as the 13 mucopolysaccharidosis diseases. The article is remarkable because it is in a predominantly Chemistry focussed magazine. YES it is important that chemists see this type of article and I will tell you why.

As the article explains I met Jill in late 2011 at a 1 to 1 meeting at Partnering for Cures and was amazed at what she had gone through and done in a small space of time. I hope the tens of thousands of readers of this magazine/ website will see the same. Parents like the many highlighted in the article are driving the search for treatments and we “chemists” can help them. There are likely many readers that will be inspired by reading the article, if they want to find out how they can help please get in contact with any rare disease foundation they see, like those described in the article too. Perhaps others with an entrepreneural streak or who have recently lost their jobs will feel that rare diseases are a ray of hope on the pharma / drug discovery landscape. Maybe they will have an idea and develop a molecule or treatment, maybe they will help raise visibility for rare diseases, or maybe they or a loved one has a rare disease and they did not know it until reading this…While big Pharma is certainly showing more interest in rare diseases, most of the treatments have come from biotechs to date that in some cases are being sought out by the bigger fish,  but do they have the ability to move as fast as smaller biotechs? VC are also investing in rare disease start ups. I see this as just the tip of the iceberg. Chemists have to be a part of the future of rare disease research and I think Lisa’s article could catalyze this.

If readers of the article have any suggestions on what we could do to engage more chemists I would be interested and if I can connect you to rare disease foundations I would be happy to do this.



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  1. sean says:

    Here is the PDF to download the CE News article by Lisa Jarvis http://cen.acs.org/content/dam/cen/91/19/09119-cover.pdf

  2. Kellie says:

    Just thought that I would let you know that Heriditary Neuropathy Foundation is spelled wrong.. it should be changed especially since it is a highlighted text embedded with the link to the site.

    1. sean says:

      Many thanks Kellie,

      Now corrected to “Hereditary” – thanks for spotting it.

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