Scientific discovery provides the foundation for developing treatments for rare neurodevelopmental disorders. Research in this stage focuses on understanding disease biology, identifying biomarkers, and developing models that allow scientists to study how genetic variants affect brain development and function. These discoveries help reveal potential therapeutic targets and guide the design of future clinical studies.
COMBINEDBrain supports collaborative discovery efforts that bring together patient advocacy organizations, clinicians, and researchers to generate the data and resources needed to advance therapeutic development. Through initiatives such as disease modeling, biomarker discovery, multi-omics studies, and deep phenotyping research, these programs help translate genetic insights into the scientific knowledge required to move potential therapies toward clinical testing.
Disease Models Disease models allow researchers to study how genetic variants affect brain development and function. By developing cellular and experimental models that replicate key aspects of rare neurodevelopmental disorders, scientists can investigate disease mechanisms and evaluate potential therapeutic strategies in a controlled research environment. These models provide critical platforms for testing hypotheses about disease biology before therapies move into clinical development. Please contact: Biorepository@combinedbrain.org | Biomarker Discovery Biomarkers are measurable indicators of disease that can help researchers understand disease progression and evaluate treatment effects. COMBINEDBrain supports efforts to identify molecular, imaging, and clinical biomarkers that can improve diagnosis, inform research studies, and support the development of future clinical trials. Reliable biomarkers can also help researchers measure whether a potential therapy is having the intended biological impact. Please contact: Biorepository@combinedbrain.org |
Multi-omics Studies Multi-omics research integrates multiple layers of biological data—such as genomics, transcriptomics, proteomics, and metabolomics—to better understand the complex biology underlying rare neurodevelopmental disorders. These studies help identify disease pathways and potential therapeutic targets by revealing how genetic changes affect cellular systems. Integrating these data types provides a more comprehensive view of disease mechanisms than any single dataset alone. Please contact: Biorepository@combinedbrain.org | Phenotyping Research
Phenotyping research focuses on systematically documenting the clinical characteristics. Through the COMBINEDBrain MATRIX portal, detailed clinical information is collected, electronic health records can be securely linked, and data are integrated with genetic information. This enables researchers to better understand disease variability, identify meaningful outcome measures, reveal aspects of disease biology, and support the design of future clinical studies. Please contact: Studies@combinedbrain.org |
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EEG Bank
The EEG Bank is a centralized resource for storing previously recorded or prospectively collected EEGs in a standardized, de-identified format. This resource enables researchers to study brain activity patterns, identify potential biomarkers, and support the development of new therapies. COMBINEDBrain offers EEG collection at Roadshows and in-home services. This growing dataset provides a valuable foundation for cross-disease research and longitudinal analysis. Please contact: EEGBank@combinedbrain.org |
