Neuromuscular Disease Biobank (NeuMD-Besta)
bbmri-eric:ID:IT_1383929642991480
Description
The NeuMD-Besta biobank is concerned with muscle tissues, DNA and muscle cells from patients with neuromuscular diseases, as part of the routine diagnostic activity of the Neuroimmunology and Neuromuscular Diseases Unit. We started to collect muscle tissues since 1986 and to obtain myoblast cell lines since 1991. At present, the biobank stores more than 8000 muscle tissue samples, more than 10000 DNA samples and almost 2000 myoblast cell lines. The biological material is mainly characterized at the histological, biochemical and clinical level, and for some cases, genetic data is also available. The molecular diagnosis are important for phenotype-genotype correlation and pathogenic mechanisms of diseases studies. However, in the biobank is also present undiagnosed material, very important for studies on new disease genes.
Type of biobank
Genetic, Pathology, Paediatric
Domain of biobank
Rare diseases, Neurological diseases
Institution
Translational Medicine Hospital (Istituto di Ricovero e Cura a Carattere Scientifico – IRCCS)
Region
Lombardia
Country
Italy
More information
Network
We are partner of the EuroBiobank, of the Italian Telethon Network of Genetic Biobanks and BBMRI.
Contact details
Neuromuscular Disease Biobank (NeuMD-Besta)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Via Celoria 11
biobank_neuromusdis@istituto-besta.it0223944653