Journal of Genomics and Precision Medicine

Hammal Khan is a molecular geneticist specializing in identifying novel disease-causing genes in rare inherited disorders, particularly skeletal and limb anomalies. His MPhil and PhD research involved working with genetically diverse families across Pakistan—especially from Balochistan—using next-generation sequencing, SNP microarrays, and Sanger sequencing to uncover the underlying molecular causes of disorders such as polydactyly, syndactyly, and other developmental malformations. He has published numerous first-author and co-authored papers in high-impact international journals. His scientific contributions earned him nominations for the Young Scientist Award (Japan Society of Human Genetics) and the Wiley Research Heroes Prize. In addition to his research work, he teaches molecular biology and metabolism courses, supervises master’s students, and has over 15 years of volunteer experience advocating for persons with disabilities. His ongoing interests include skeletal genetics, neurological disorders, molecular diagnostics, advanced omics technologies, and RNA-seq–based research.

• Molecular diagnostics
• Functional genomics & advanced omics
• Protein modeling & bioinformatics workflows
• Microarray analysis

1. Reviewer for BMC Genomics and Genetics in Medicine

2. Advisory Board Member, MehrGarh Research Institute

3. Organized multiple scientific conferences, workshops, and hands-on training programs

4. Participated in national and international conferences (IBRAS 2023, Genetics in Medicine Conference, etc.)

5. Conducted and attended hands-on workshops in NGS, qPCR, biosafety, biosecurity, cryopreservation, and R-studio data analysis

1. Novel KIAA0825 variants causing nonsyndromic postaxial polydactyly (Genes, 2025).

2. Bi-allelic DSG1 splice-site variant in striate palmoplantar keratoderma (Journal of Dermatology, 2025).

3. Beyond brittle bones: Genetic mechanisms of osteogenesis imperfecta (WAS Journal, 2024).

4. FAM92A gene variant confirming role in PAPA9 (Clinical Genetics, 2024).

5. HR variants causing atrichia with papular lesions (The Journal of Dermatology, 2024).

6. Novel SMO variant underlying postaxial polydactyly (Molecular Syndromology).

7. Investigation of 14 families with short stature syndromes (Clinical Genetics, 2024).

8. CDC14A variants causing nonsyndromic hearing loss (2024).

9. Variants in DLX5, HOXD13 linked to limb malformations (Clinical Genetics, 2023).

10. Novel PIGO mutation in HIDE syndrome type 2 (2023).

11. EFCAB7 variants causing nonsyndromic postaxial polydactyly (EJHG, 2023).

12. Advances in skeletal disorder genetics (2023).

13. LRP4 variant causing polydactyly and synostosis (Congenital Anomalies, 2023).

14. AFF3 variant causing isolated syndactyly (Clinical Genetics, 2023).

15. GLI1 variant causing postaxial polydactyly (EJMG, 2022).

16. TCTN3 splice-site variant causing OFD syndrome (Annals of Human Genetics, 2022).

17. LRP4 variants in Cenani-Lenz syndactyly (JHG, 2022).

18. XPC loss-of-function variants causing severe xeroderma pigmentosum (Klin Padiatr, 2022).

19. GLI3 domain variants causing GCPS (Klin Padiatr, 2021).