The COMBINEDBrain Biorepository Inventory includes biospecimens from individuals with rare genetic neurodevelopmental disorders as well as samples from unaffected individuals collected in clinical settings. Together, these collections provide a well-characterized resource for understanding disease biology, enabling comparison between affected and unaffected populations, and supporting biomarker discovery and therapeutic development.

Rare Genetic Neurological Disorder (RGND) Collection

The RGND Collection consists of biospecimens collected from individuals diagnosed with rare genetic neurodevelopmental disorders through standardized, IRB-approved research protocols. These samples—such as blood-derived biospecimens, biofluids, and cells—are often linked to detailed clinical, diagnostic, and longitudinal phenotypic data captured through the COMBINEDBrain MATRIX platform. This collection supports disease-specific research, natural history studies, and cross-disorder analyses across the COMBINEDBrain network.

Healthy Clinical Participant Samples

The Healthy Clinical Participant Collection includes biospecimens obtained from unaffected individuals undergoing routine or clinically indicated medical procedures at the Medical University of South Carolina (MUSC). These samples provide critical baseline and comparator data, enabling researchers to distinguish disease-related biological signals from typical biological variation. When available, specimens are linked to relevant clinical context, making this collection a valuable resource for controlled analyses, biomarker validation, and interpretation of findings across neurological disorders.

Current Biospecimen Inventory