Rare Disease Informatics SIG January Meeting CLN3 Collaborative Study

About this Class

The RDI SIG is a trans-institute group whose investigators apply informatics approach to curate, harmonize, standardize, and analyze biomedical data obtained from a variety of resources (i.e., gene sequences, bioassays, electronic health records and other forms of real-world data, scientific publications) for clinical, biological, and public health research applications. The group meets to discuss the challenges/emerging technology of integrating computational techniques into analysis workflows and new developments in rare disease informatics applications. January's meeting will involve a presentation on one of the collaborative projects formed from this SIG. Utilizing proteomics data and laboratory tests from the NICHD observational study 18-CH-0002, this study aims to identify significant biomarkers associated with CLN3. The ultimate goal is to construct a prediction model for assisting in CLN3 diagnosis. Preliminary findings include the identification of key CLN3-related biomarkers using panelized regression models and Random Forest classification, and a time series analysis pilot study revealed proteins whose changes precede symptom worsening, suggesting the potential for developing an early prediction model to facilitate early-stage interventions in preventing CLN3 progression.

For more information on the SIG, visit our homepage: https://oir.nih.gov/sigs/rare-disease-informatics-scientific-interest-group