Institute for Neuroacanthocytosis Research Grants We encourage applications for research grants for investigations into the genetics, diagnostics and epidemiology of the NA syndromes as well as the pathophysiology and the related red blood cell abnormalities. Neuroacanthocytosis syndromes are a group of rare diseases, characterised by misshaped erythrocytes and progressive neurodegeneration, causing movement disorders and neuropsychiatric symptoms. The rarity and wide geographical spread of the NA diseases have contributed to a number of different researchers principally in Europe and Japan 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. Since acanthocytosis is part of the NA syndromes 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.
Our Objectives for Research To pursue the fundamental physiological questions raised by NA including the: role of the proteins affected by the mutated genes in each disease as well as their molecular and cellular function cause and significance of the spiky red blood cell membranes that are a defining characteristic of the diseases pathway that leads to neuronal apoptosis in each of the diseases To promote wide collaboration in the clinical study of the diseases. Because no country has more than an estimated 100 cases of NA and most countries in the world have fewer than 10 cases, it is vital that case histories of patients from around the world be available to those studying the clinical aspects of the diseases. To develop the tools and the skill of neurologists to diagnose and, in the future, to treat the diseases. To collaborate effectively with research into other similar conditions especially Huntington’s disease. To encourage new, promising projects with seed money and assist in approaching larger grantors.
Our Values Our funding seeks to: Promote basic, curiosity-driven, investigator–led research that relates to the phenotypes of the NA diseases. Bring together the wide research community around the world including haematology, cell biology, neuroscience and neuropsychiatry. Encourage the wide dissemination of and free access to the research we support. We will seek to support unrestricted access and the public benefit wherever possible by requiring electronic copies of any research papers that have been accepted for publication in a peer-reviewed journal and are supported by the Advocacy to be deposited into PubMed Central (PMC) to be made freely available as soon as possible and in any event within six months of the journal publisher’s official date of final publication. Do every thing possible to have strong communication with researchers receiving grants to assure that funds are used for the intended purpose. Promote good communications between those working on NA research and others concerned with other diseases of the basal ganglia.
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