NCNP’s bioresources provide the foundation on which our research mission to develop next-generation diagnostics and treatments for neuropsychiatric and muscular diseases rests. Accordingly, our Department of Clinical Development prioritizes the collection and maintenance of samples, such as brain and muscle tissue and cerebrospinal fluid (CSF), related to the focus of our current research, alongside detailed and accurate clinical information. To date, we have collected over 15,000 frozen muscle tissue specimens, 600 brain tissue specimens, and 3,000 cerebrospinal fluid samples. We also have over 500 pedigree samples collected from individuals with intellectual disability. Recently, we started the prospective collection of blood and DNA samples and detailed clinical data (mainly psychiatric) from consenting patients attending our outpatient clinic, as part of a collaborative project led by the National Center Biobank Network. For more information on the NCNP Biobank, see.
Using our bioresources, the Department of Clinical Development, together with the National Institute of Neuroscience and other collaborators, have identified many causative genes for hereditary neuromuscular diseases and intellectual disability. We are also expanding our research to more complex neuropsychiatric disorders, such as Parkinson’s disease, schizophrenia, and depression. Recent advances in analytical equipment have enabled us to apply non-biased, comprehensive proteomics and metabolomics methods to analyzing samples. The quality of the clinical information we collect, store, and analyze has a substantial impact on our selection of candidate markers. Using CSF samples and corresponding detailed, accurate clinical information, we are exploring CSF biomarkers of neuropsychiatric disorders that we expect will help us identify new subgroups among the disorders and new target molecules for drug development.
The Department of Clinical Development aims to establish new diagnostic methods by applying cutting-edge technologies such as next-generation sequencing. We have already established muscle gene panels for target re-sequencing analysis that cover virtually all known causative genes of hereditary muscle diseases. We have also established an informatics analysis pipeline for whole exome sequencing analysis data and are trying to identify new causative genes for hereditary neuromuscular disorders.
The Department of Clinical Development supports developments in neuromuscular medicine by providing a nationwide neuromuscular diagnostic service. This service includes muscle pathology and genetic analyses that are not fully covered by the current national health insurance system in Japan. The service has handled more than 800 muscle samples to date, more samples than most single laboratories manage worldwide. These samples constitute the muscle repository, a major part of the bioresources held in our biobank at NCNP.