The Advocacy calls for research grant proposals when we are able to make seed money grants of up to $100,000 to encourage investigations into the pathophysiology and the related red blood cell abnormalities as well as the diagnostics, epidemiology and genetics of the NA syndromes.
NA diseases are monogenic movement disorders associated with degeneration that begins in the basal ganglia. NA strikes generally
in the third or fourth decade with phenotypes resembling Huntington’s and Parkinson’s disease. The NA diseases are characterized
by acanthocytic red blood cell membranes. We hypothesize that acanthocytosis relates to a malfunction in the membrane that in neurons
may hamper normal autophagy and lead to cell death.
The rarity and wide geographical spread of the NA diseases have contributed to a number of different researchers principally in Australia, Austria, France, Germany, Great Britain, Israel, Italy, Turkey and the United States pursuing specific studies of the elements of the NA phenotypes including descriptive history of the development of the disease, the abnormalities of the erthrocytes and the function of the VPS 13A protein that is absent in chorea-acanthocytosis. And since acanthocytosis is part of the NA diseases' clinical manifestations, the study of acanthocytes may offer the possibility to progress in the disease’ knowledge, to identify new cell signalling pathways towards either membrane proteins or transport systems.
The Objective of our research is to find therapies for the NA diseases through :
The Advocacy’s medium-term goal is to identify the pathway to neurodegeneration in the NA diseases and eventually to find
therapies to delay or prevent the development of neuroacanthocytosis.
We are especially interested in:
●● The function of the protein Vps13A (chorein) that is missing in chorea-acanthocytosis (ChAc),
the most common of the NA diseases.
●● Shape, folding, and abnormal folding of Vps13A, and XK proteins
●● Genome-wide association search for other mutations in NA patients
●● Relationship of acanthocytosis to cell malfunction and death
●● Development of animal or cell models
●● Work on the established registry of neuroacanthocytosis patients
●● Study of natural history of NA diseases in comparison to Huntington’s and Parkinson’s diseases
●● Protein interactions in NA diseases
Scope of investigation
Applications from Principal Investigators not currently pursuing NA research are welcome if their specific expertise, together
with proof of project feasibility and relevance, can provide novel approaches to the identification of disease mechanisms and
therapeutic targets for NA.
The Advocacy’s aim and expectation is to promote close collaboration between all researchers in the field of neuroacanthocytosis,
including the investigators supported by the nine previous grants, as well as with the European Multidisciplinary Initiative on
Neuroacanthocytosis (EMINA) (www.emina2.eu). Special consideration will be given to applications that demonstrate collaboration.
If results from Advocacy funded research are not accepted for publication within 6 months after the conclusion, it is expected that
results, whether positive or negative, will be published in “PLoS Currents: Huntington Disease” (http://plosone.org).
Since 2007 we have awarded nine grants for basic research projects and one for clinical research. Progress reports of these projects
are at www.naadvocacy.org/research-grants under NANews.
All proposals will be assessed by our Scientific Advisory Panel that will call on scientists with expertise in the field of proposal. The
panel will consider: significance, technical merit, quality of the applicants´ previous work, relevance of goals of the research, and
complementarity with other proposals or ongoing research.
How to apply
Grant Proposals may be submitted at any time.
In the past our grants were of the order of €35,000 (US$ 38,000) per annum. The families and friends of a small community of
patients fund the research of the Advocacy
Please contact firstname.lastname@example.org tel +44 20 7937 2938
ADVOCACY FOR NEUROACANTHOCYTOSIS PATIENTS
seeks proposals from academic researchers for investigations into the