NAPLES HUMAN MUTATION GENE BIOBANK (NHMGBB): A DATA AND SAMPLES RESOURCE OF NEUROMUSCULAR DISORDERS FOR A WORLDWIDE COLLABORATION

The specificity of the Bank (NHMGB) is to store biological samples of patients affected with neuromuscular diseases and primary cardiomyopathies, and to make samples available to the scientific community worldwide. The increase interest in rare disorders and the possibility to have in a near future a personalised therapy for each patient makes important to have a number of patients well defined by a molecular point of view and and statistically significant for unequivocal results. The bank is active since 1991 and was supported by Telethon grants from 1996 to 2002. Each sample set present in the bank includes the DNA sample from the affected individual, a sample from his/her first-degree relatives, when necessary, according to the pattern of inheritance. The bank also contains DNA samples from normal individuals, for both the study of polymorphisms in our population and to confirm the new molecular variations. This pool of samples is being refreshed on a regular basis and new samples from patients with different neuromuscular and primary myocardial diseases are being added. NHMGBB is partner of a European network of biobanks (EuroBioBank) concerned with storage of biological samples from patients affected by rare diseases. Thus, as members of the EuroBioBank Network, the synergies among all Banks are already present in terms of harmonization of ethical, legal and standard operating procedures (SOPs). The bank is important for the material that has a precise diagnosis (at DNA level) because, clinical, histopathological and biochemical data related to such material are also accessible from the bank and are useful for phenotype-genotype correlation as well as for studies on pathogenic mechanisms of diseases. The service offered by the Biobank in terms of samples storage could be extremely helpful because Neuromuscular disorders are "Rare Diseases" and for this reason the specimens represent a unique source for both diagnostic and research purposes. The Bank service could have also a great scientific value. Indeed, it could serve as a worldwide available scientific source, and, thanks to it, all scientists, including those who do not routinely have contacts with clinicians, may have access to a vast number of specimens regarding their research field, thus being facilitated in their studies.