AELIP

Asociación AELIP

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Actividades

Equipment and facilities of the group and centre:

- Genetic, cellular and molecular biology expertise

- Clinical genetics expertise

- Genetic and cytogenetic diagnostic expertise

- Microarray and aCGH platforms 

- Animal facility 

- Next generation sequencing facility



Interesting topics:

- Clinical and molecular diagnosis of type A and B Mandibuloacral Dysplasia (MADA and MADB) and premature aging laminopathies.

- Partner of Italian Network for Laminopathies (available on line at http://www.igm.cnr.it/1/laminopatie/)

- Investigation of pathophysiological mechanisms of systemic laminopathies (molecular and cellular study of different MADA cellular models as iPS, mesenchimal stem cells and cutaneous fibroblasts, generation and study of transgenic MADA mouse model)

- Development of therapeutic strategy for MADA disease (pharmacological therapies)

- Coordination and conduction of a clinical trial to treat MADA patients 


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