Biospecimens. From the first advents of clinical neuroscience, scientists have been fascinated by biospecimen classification and storage. The immortal images from Ramon y Cajal to the staining done by Golgi have illustrated that biospecimens are parallel to the discoveries seen in clinical neuroscience. As we move to the 21st century, we may not be all that different from the forbearers of Neurology. Here is a post starting from the origins of the biorepository and leading up to the relevance of biorepositories today.
Figure 1. Illustrated above is the landscape of biorepositories shown past and present.
Biorepositories. What is a biorepository? As per the NIH, a biorepository is defined as a facility that acts as a library for biosamples, allowing the samples to be available for use in future research. Biorepositories act to collect and store samples as well as to facilitate sharing and collaborative research between researchers. In all cases, a patient is required to provide their informed consent when sharing a sample. Like early innovators in clinical neuroscience, we share the need for biospecimens to forge some of the largest new discoveries and this is exactly where biorepositories play a critical role.
Origins. The story behind AFM discovery exemplifies the need for biorepository access. In brief, AFM (Acute Flaccid Myelitis) was first discovered when a group of 48 pediatric patients presented with significant motor paralysis. This paralysis was later associated with enterovirus EV-D68 because of an existing biorepository that collected cerebrospinal fluid (CSF) from the affected patients. It is our shared hope that biorepositories can continue to identify the unexplained.
Resolution. In any particular inpatient pediatric neurology unit, it is common to find unresolved cases – cases where there is no clear diagnosis. These unresolved cases often remain unresolved. Individuals with neurological disorders that have not received much attention are where biorepository-based studies are critical. The unique ability to retrospectively assess biospecimens are what can lead to identification of molecular components, genes and pathological assessments of disease presentations.
Pediatric neurology. Like other biorepositories or biobanks, samples stored from pediatric neurology patients can be used to conduct Genome Wide Association Studies (GWAS), identifying biomolecules of interest, and newer innovations in sequencing such as RNA-Seq, to name a few. According to biorepository best practices for research and clinical investigations, “centralized biobanking offers benefits like standardization and harmonization of procedures, quality management, tracking, distribution and implementation of all regulatory requirements by designated trained personnel”. The scientific and institutional benefits to biobanking are an essential component to any academic hospital and one that is especially needed within the context of pediatric neurology.
Scope and Future. For a second, I would like you to imagine the potential of a biorepository integrated with the ongoings of a busy inpatient Neurology floor. Integrated with the physicians, residents, nurses, and advanced practice providers would be research staff equipped with the ability to identify, collect, and store biospecimens. The instantaneous accession of biospecimens would allow investigators to rapidly assess the most pressing questions that exist within the patient population seen on the floor. Through this process, ideas and projects such as case studies, disease-specific cohorts and biomolecular analysis could be easily shared and developed. Linkage of biorepositories and clinical neuroscience centers will enable us to create a greater understanding of the unknown mysteries of neurology. It is through biorepositories where we can explore the diagnoses that continue to mystify us by having the resources readily available to answer our questions and further our understanding of disease.
