67 Kenyan patients. Different diagnoses. One recurring genetic pattern that only became visible once the data was properly connected.
This whitepaper shows how fragmented clinical, pathology, and biobank records from a rare disease cohort in East Africa were linked into a single research-ready dataset. Once structured, previously hidden patterns emerged, including shared molecular signals across clinically diverse presentations.
The report covers:
* Molecular evidence linking diverse clinical presentations to the same PIK3CA pathway
* The challenges of diagnosing and studying rare diseases in underrepresented populations
* The role of data models and harmonization using biobanking to uncover health insights
Download the full whitepaper to explore the cohort, methodology, findings, and implications.