Today is Rare Disease Day. It would be the "rarer" Feb 29th but that isn't going to happen this year.

http://www.rarediseaseday.org/

With that in mind, and the recent HFCC announcement, the following is part of a message I posted about WCG to a support forum for esophageal achalasia, (achalasia has nothing to do with childhood cancer).

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(Introduction and much about WCG and HFCC not shown)

That is all nice but it may seem like it (WCG and the technonogy) has nothing to do with achalasia. Mostly it does not at this time (at least not for primary achalasia). I think it does have potential for achalasia though.

First this is the development of a new way of doing research. In the past testing millions of chemicals in the lab to find those with potential would not have been practical. Providing tens of thousands of years of computer time to a research project was also not possible for most labs. Today that is changing. Today seven compounds have been identified by this technology with proven real lab results that may lead to new treatments for cancer. These kinds of results can also lead to better understanding of how chemicals in our bodies work. What the substances our genes code for do and how they interact with other substances in our bodies. In fact, some of the research done with this technology has been to find the shape of proteins our bodies produce. Knowing the shape of the proteins is important in knowing how they work and why variations and mutations of genes work differently, possibly causing or predisposing to disease. Some problems in medicine can not be solved if we don't first have the right tools and knowledge. This is an advance of knowledge and tools. The cause of achalasia is not known, possibly because we don't have the tools and knowledge to understand the cause. If it does have a genetic component then being able to understand the shape of the proteins related to those genes could be important.

Second, the emphasis of the WCG on public and not-for-profit organizations and publicly published data is important for rare disease research. Combining that with donated computer time from around the world scientist working on rare and orphaned diseases can access a tool that otherwise they would be unlikely to match with limited public funding and interest. In fact, three projects at WCG were for tropical parasitic diseases, Malaria, Schistosomiasis, and Leishmaniasis. Leishmaniasis is a disease caused by a parasitic flagellate protozoa that is in the same order (Trypanosomatida) as Trypanosoma Cruzi which causes secondary achalasia in Chagas disease. Not direct research into the major cause of secondary achalasia but you can see the potential. That probably wouldn't help us with primary achalasia but the fact that such diseases can get this kind of research done should be encouraging to us. So often people express frustration with the little funding and support that rare diseases receive.

Perhaps someday researchers with one of the rare disease organization, or even in conjunction with the Martin Mueller IV Achalasia Awareness Foundation, will be able to make use of this technology and generosity, for achalasia research. First, though, someone has to be able to state the problem in a way that such technology can be applied to. There may not yet be enough known about achalasia to ask the right questions. There is more than just looking for the cause though. Medications for esophageal spasms that better target the esophagus with less side effects than the medications now used would also be important. I believe achalasia is an interesting science and medical problem. Just as new tools and knowledge may help achalasia. A better understanding of achalasia may provide better science and medical understanding to apply to other problems.

(End quoted message)
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Hopefully someone finds that helpful or inspiring.