The ability to compare different neurological illnesses and to develop biomarkers that assist in diagnosis, prognosis, or response to therapy would represent a significant leap forward in the field of pediatric neurology. Biorepositories are essential to providing a reliable and high-quality source of human biological samples and related clinical information to advance biomedical translational research, thus enabling the evolution of personalized medicine.
The Neuroscience Biorepository at CHOP was recently launched to serve as a high-level home for blood samples, tissue samples, and other types of biological materials, partnered with a carefully constructed database of relevant clinical information. This repository is unique in that it was designed to address the need for a broad neurological biorepository with a focus on pediatric disease.
Families have the option of consenting to the anonymized system, wherein the collected samples can be studied without the ability to link back to the providing individual, or to consent more broadly to permit researchers to contact them in the future for more information.
Future of Neuroscience Biorepository
We are now moving from the launch and early operational phases of the project into the oversight and administrative planning phases. Partnering with the epilepsy genetics, leukodystrophy, and inflammatory brain groups within the Division of Neurology has enabled us to collect a wide variety of pediatric and adult samples to form the basis of the Neuroscience Biorepository. It also includes a rapidly expanding collection of samples from spinal muscular atrophy patients, which will be one of the first longitudinal collections in the world — a timely project given the very recent implementation of gene therapy for this disease.
To date, we have collected more than 2,500 samples from more than 80 individuals. We now have a diverse pediatric biobank that is integrated with EPIC (CHOP’s electronic health record system) and is ready to become a fully operational and robust research infrastructure.
In collaboration with Amit Bar-Or, MD, Director for the Center for Neuroinflammation and Neurotherapeutics at the Perelman School of Medicine at the University of Pennsylvania, and the NeuroImmune Center at Penn, we are developing a unique lifespan research program to ensure the transition of care for future CHOP patients to Penn when they reach adulthood.
In the next few months we will expand our partnerships with CHOP’s Harriet and Ronald Lassin Newborn/Infant Intensive Care Unit and Pediatric Intensive Care Unit, and we are also excited to launch pilot grants now that sufficient samples have been procured.