Chromatin Diseases: from basic mechanisms to therapy

DisChrom is an Initial Training Network funded by the European Commission
under the 7th Framework Programme and coordinated by the Italian Consiglio Nazionale delle Ricerche, Institute of Genetics and Biophysics “A.Buzzati Traverso”.

The DisChrom ITN aims to study, at different levels, the molecular mechanisms underlying four chromatin diseases, the potential for therapeutic intervention and the development of new technologies to dissect the epigenetic abnormalities associated with these conditions.

Our interest is focused on four CDs:
i) Rett syndrome
ii) Alpha thalassemia with mental retardation (ATRX) syndrome
iii) Facioscapulohumeral muscular dystrophy (FSHD)
iv) Immunodeficiency, Centromeric region instability, Facial anomalies (ICF) syndrome

Disease frequency ranges from quite rare (ICF syndrome) to rather frequent (Rett syndrome,
which can account for up to 10% of severe mental retardation of genetic origin in women).

In some respects, therefore, all CDs here studied represent a social problem.
Contrary to common diseases, rare diseases are often not interesting to big pharma
for developing therapeutic interventions.