AELIP

Asociación AELIP

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Actividades

Research lines

- Genetics of Emery-Dreifuss muscular dystrophy and related laminopathies of the striated muscle (search for new major and modifier genes)

- Set up and maintenance of Locus specific database for LMNA mutations: UMD-LMNA (available on line at www.umd.be/LMNA/)

- Development of national patient registry for all types of laminopathies (striated muscle, lipodystrophy, progeroid syndromes…). This registry shall be open to European centers in the future.

- Investigation of pathophysiological mechanisms of striated muscle laminopathies (use of to Knock-in mouse models)

- Development of therapeutic strategy for striated muscle laminopathies (pharmacological cell and gene-based therapies).


Facilities

-Animal facility with cardio muscular evaluation including MRI imaging for Knock in mouse models

-Histopathology platform for muscle biopsy of both patients and mouse models

-Access to immortalized cells platform (myogenic and dermal cells)

-Genetic, cell & molecular biology expertise

-Access to AVV production plateform

-Platforms and expertise available at the Myology Institute are described at http://www.institut-myologie.org/

Actividades
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