The astrocyte nanofilament system in Alexander disease – from molecules to function, uncovering new leads for therapy

Project name in Czech
The astrocyte nanofilament system in Alexander disease – from molecules to function, uncovering new leads for therapy
Annotation in Czech
Alexander disease (AxD) is a rare genetic brain disease with no cure. AxD patients show white matter degeneration and extensive loss of brain tissue. Symptoms include mental retardation, epilepsy, muscle stiffness, and AxD leads to death. About 500 AxD cases have been reported worldwide. AxD is caused by mutations in GFAP, an astrocyte intermediate filament (nanofilament) protein. The disease starts in astrocytes, cells that control many neuronal functions and homeostatic mechanisms of the brain. However, it is not known how AxD astrocytes cause the disease, and the available animal models are imperfect. ALEXANDER consortium partners have complementary expertise, and unique technologies to determine the cellular and molecular mechanisms leading to AxD and to design future treatment strategies. We will use induced pluripotent stem cells from AxD patients to derive astrocytes, neurons, and other glial cell types and to generate brain organoids. We will also generate an AxD killifish model. We will elucidate the effects of AxD astrocytes on neurons, and other aspects of AxD pathogenesis.

R&D category
ZV - Basic research
OECD FORD - main branch
30502 - Other medical science
OECD FORD - secondary branch
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OECD FORD - another secondary branch
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CEP - equivalent branches <br>(according to the <a href="http://www.vyzkum.cz/storage/att/E6EF7938F0E854BAE520AC119FB22E8D/Prevodnik_oboru_Frascati.pdf">converter</a>)
FP - Other medical fields

Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data delivery code
CEP23-MSM-8F-R
Data delivery date
Mar 2, 2023

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