P284: Development of a comprehensive rare disease registry integrating multisource genomic and phenotypic data in Pakistani patients
Abstract
Genetic disorders affect millions worldwide but remain underrecognized in many low- and middle-income countries. In Pakistan, the lack of a centralized genetic disease registry has resulted in scattered data, inconsistent documentation, and limited understanding of genotype-phenotype relationships. This gap restricts both research and clinical decision-making. To address this need, we developed a comprehensive rare disease registry using open-source, non-proprietary tools to ensure low-cost implementation and adaptability in resource-limited settings.
Fields of Study & Subjects
Genomics and Rare Diseases
Electronic Health Records Systems
Research Data Management Practices
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103778–103778
- Publication date
- 1 January 2026
- Language
- EN