Post by BioVana Research

We are proud to share BioVana’s first whitepaper titled “Overgrowth spectrum in African patients: A retrospective clinical, phenotypic, histopathologic and molecular characterization of patients in Kenya.” This report explores how biospecimens, pathology archives, and clinical data from a rare disease cohort in Kenya were structured into a research-ready dataset, revealing genetic patterns that are often missed when data sits in fragmented systems. It covers:  • Molecular evidence linking diverse clinical presentations to the same PIK3CA pathway • Challenges in diagnosing and studying rare diseases in underrepresented populations • The role of data models and biobank harmonization in enabling insight generation • Long-term value creation from clinical archives Download the whitepaper here: https://lnkd.in/ekKbMBDT If the cohort your research needs is rare, underrepresented, or just out of reach, that's what we build. 📩Reach out at [email protected] #Biobanking  #ClinicalResearch  #Genomics  #RareDiseases  #HealthDataInfrastructure #Biovana