Project: Leveraging a Knowledgebase to Enhance Diagnosis, Treatment, and Global Collaboration for OCNDS

Lead Investigator: Dennis Lal, PhD, UT Southwestern

Grant Details:

Project funded for 1 year starting in 2025 for a total of $67,593.

Aims of Grant:

This project aims to develop a centralized knowledgebase to advance the diagnosis, treatment, and care of CSNK2A1 disorders, including Okur-Chung Neurodevelopmental Syndrome (OCNDS). By aggregating and integrating genetic and clinical data, the knowledgebase will serve as a vital resource for researchers, clinicians, and families, offering tools for precision medicine, insights into genotype-phenotype correlations, and personalized treatment recommendations. It will also establish a collaborative platform to share best practices and treatment outcomes globally. The knowledgebase will include a comprehensive repository of genetic variants and clinical data (from Simons Searchlight), include tools to facilitate genotype-phenotype analyses, and establish a collaborative platform for data sharing and best practices for researchers.