CureFFI.org is an informal online forum for discussing and researching prion diseases.  The site is maintained by the founders and supporters of Prion Alliance, Inc., a non-profit organization devoted to supporting scientific research towards a treatment or cure for human prion diseases.  As the name of this blog suggests, we are motivated by our personal quest to cure Fatal Familial Insomnia (FFI).

This site reflects the open source values of Prion Alliance. We share what we’re working on and thinking about, even if it’s speculative and unpolished. When we first started learning about prion diseases in December 2011, we had no scientific training and no academic affiliation– really, nothing but Wikipedia and our determination to understand scientific articles no matter how many times we had to read them. But over months of hard work and thanks to the incredible patience of some scientist allies who helped us to get our footing, we came to get a handle on the disease and where research on it stands today. CureFFI.org aims to capture all this knowledge in blog form and be the resource to you —and us— that we wish we had when we first started.

Along the way, there’s a lot else we’ve posted here. Some of us now have jobs working on Huntington’s Disease, so you’ll find a fair bit of content related to that here as well, along with a pile of bioinformatics code and ideas that we hope will be useful to people working on a variety of diseases.

If you like our blog, drop us a line to let us know, or contribute to our research at Prion Alliance.

fatal familial insomnia

For a primer on FFI, see introduction to fatal familial insomnia. In short: FFI is a rare genetic neurodegenerative disease caused by misfolded forms of human prion protein (PrP).  The disease is rare, and as far as anyone knows, it is pretty much completely penetrant, meaning anyone who has the mutation will eventually get the disease and die from it, though the age of onset varies considerably. And it’s dominant, meaning you only need one mutant allele to get the disease. Once the disease sets in, rapid neurodegeneration along with insomnia, hyper- or hypo-thermia, lack of appetite and a host of other symptoms take hold very quickly. The average age of onset is about 50, and after the disease starts, surivival is a few months to a year.

But if all that sounds like a downer, remember that if you found out you had HIV in 1991, you’d have thought it was a death sentence, but (if you’re lucky enough to live in a developed country) you’d have been wrong: you’d probably still be alive today. Thanks to science. And though AIDS is a common disease with billions of dollars in funding and FFI is a rare disease, that was 1991 and this is 2013. CureFFI.org is a site for people who believe that we already live in an awesome future, and want to make it even awesomer.  Let’s do some science.

the authors

@e is Eric Vallabh Minikel, co-founder of Prion Alliance and a Computational Scientist at the MacArthur Lab at Massachusetts General Hospital in Boston, MA.