Cell lines and DNA bank of Genetic Movement Disorders and Mitochondrial Diseases

bbmri-eric:ID:IT_1383569594559774

Description

The biobank, now called ‘Cell line and DNA Bank of Genetic Movement Disorders and Mitochondrial Diseases’ (GMD-MDbank) was established in 2002 at the Fondazione IRCCS Istituto Neurologico Carlo Besta (FINCB) to collect fibroblasts and DNA from paediatric patients suffering from Movement Disorders. Since 2008 it has been part of EuroBiobank and BBMRI and since 2010 of the Telethon Network of Genetic Biobanks of which it uses ELSI instruments. Since 2012, it has been collecting samples of other neurodegenerative diseases, in particular mitochondrial diseases, neuronal ceroidolipofuscinosis (NCL) and brain iron storage diseases (NBIA), as well as samples from patients suffering from other rare neurological diseases, such as Aicardi-Goutieres syndrome or Fahr's disease, and also has fibroblasts and DNA from healthy control subjects. Today, its catalogue includes 6827 samples (252 fibroblasts and 6575 DNA) and is located at the Medical Genetics and Neurogenetics Unit of the FINCB.