Syed Ibrahim Bukhari: Transforming the Diagnosis of IBMFC through Genomic in LMICs
Syed Ibrahim Bukhari, Clinical Fellow at The Hospital for Sick Children, shared a post on LinkedIn about a recent article he and his colleagues co-authored, published in Expert Review of Hematology, adding:
“Proud to share our recent publication in Expert Review of Hematology
Genetic insights and diagnostic challenges in inherited bone marrow failure syndromes: a comprehensive study from a low middle-income country
Inherited bone marrow failure syndromes (IBMFS) are rare, complex, and frequently misdiagnosed as idiopathic aplastic anemia—especially in resource-limited settings where access to advanced diagnostics remains challenging.
In our pediatric cohort, genomic testing proved transformative:
- 34% diagnostic yield with confirmed molecular diagnoses
- Several children had their original diagnosis revised after genetic testing
- Commonly affected genes included MPL, FANCA, and DNAJC21
- Findings directly impacted treatment decisions, donor selection for HSCT, and family counseling
- High rates of VUS highlighted the urgent need for better South Asian representation in global genomic databases
Why this matters:
For children with marrow failure, the correct diagnosis can mean the difference between immunosuppressive therapy, disease-specific treatment, or urgent transplant planning.
Our study reinforces that precision medicine should not be limited by geography.
Grateful to my co-authors, mentors, and all families who made this work possible.”
Title: Genetic insights and diagnostic challenges in inherited bone marrow failure syndromes: a comprehensive study from a low middle-income country
Authors: Syed Ibrahim Bukhari, Fizza Akbar, Salman Kirmani, Zehra Fadoo, Asim Fakhruddin Belgaumi, Sadaf Altaf
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