Can anle138b delay the onset of genetic prion disease?

Sonia Vallabh & Eric Minikel

Massachusetts General Hospital

$17,217Pledged
215%Funded
$16,800Next Goal
0Days
Success!
This project was funded on:
28 September 2013
$$$
Prions - infectious proteins - cause fatal, untreatable neurodegenerative diseases. A promising new compound looks like it may be able to delay onset. Will it work against genetic forms of the disease?

Update: we have now raised funding to study this compound in three models of prion disease including a model of Sonia's own mutation, fatal familial insomnia. On our last day we are now fundraising to support our many other projects, described below.

Budget

Budget Overview

The total cost of this study is $16,013. Prion Alliance has funded half of the project costs up front, and the other half is being raised through this Microryza project. Dr. Armin Giese has provided the experimental compound anle138b at no charge.

As shown in the budget breakdown, funds will be spent on labor costs, mouse space and laboratory supplies.

The detailed budget breakdown for our additional two goals of $4400 each can be found in this blog post.

Meet the Researcher

Background

We learned in December 2011 that Sonia carries the D178N 129M mutation that causes fatal familial insomnia, a genetic prion disease. Since then, we've launched a personal quest to cure prion diseases. We changed our careers to become scientists, started a scientific blog, CureFFI.org and a non-profit research foundation, Prion Alliance.
Our collaborators for this project have been in this field much longer. Dr. James Mastrianni at University of Chicago, as both a neurologist and a researcher, studies the pathogenesis of prion diseases from the molecular level to the clinic. He is an expert on genetic prion diseases and developed the GSS mouse model that we will use in this study and has conducted previous therapeutic trials using this model. Dr. Armin Giese at Ludwig Maximilian University of Munich has studied the biochemistry and cell biology of prions for two decades. For the past ten years he has led high-throughput screening and lead development efforts for anti-prion compounds, culminating in the recent invention of anle138b.


Video produced and directed by: Chelsea Groves Kuhnle & Alan Ransil.

Background image of cultured neurons: Randy Singh Atwal.

Anle138b citations: U.S. Patent US20110293520, Wagner 2013. See also our review of prion therapeutics tested in vivo.

Mouse model citations: GSS A117V Yang 2009; see also previous therapeutic study of rapamycin using this model, Cortes 2012. Fatal familial insomnia Jackson 2009, E200K Creutzfeldt-Jakob disease Jackson 2013.

The genetic prion diseases include fatal familial insomnia (FFI), Gerstmann-Straussler-Scheinker syndrome (GSS) and the genetic forms of Creutzfeldt-Jakob Disease (CJD). For a review see Mastrianni 2010 (full text here). For some lighter reading see also our introduction to fatal familial insomnia.

Project Backers

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