Saturday, December 02, 2023

Dr. Naveed Altaf Malik,

Principal Scientist, Leader Human Molecular Geneti

Work Phone: 0092-41-9201407, 0092-41-92014
Fax Phone: (+92 41) 9201472
Dr. Naveed Altaf Malik

Academic Qualifications:

  • PhD. Human Genetics (2018), Queen's Medical Centre, The University of Nottingham, United Kingdom.
  • MPhil, Biotechnology (2005), Quaid-i-Azam University, Islamabad
  • MSc, Biochemistry (2002), University of Arid Agriculture Rawalpindi, Pakistan 


Research Interests:

My group strives to uncover molecular genetics and mechanisms of neurological disorders and congenital heart diseases. This not only gives patients a precise genetic diagnosis, but also paves the way towards new therapeutic approaches and preventive measures.

We work with collaborators based in different countries and with expertise in different disciplines. In our research, we are using state-of-the-art methods of exome and genome sequencing, transcriptome analysis, genome editing, functional analysis of underlying pathogenic gene variants in different cellular models like patients-derived fibroblasts/induced pluripotent cells and other model organisms.


 On-going Research Projects:

  1. Exploiting the therapeutic potential of new CRISPR based gene editing tools for inherited neurological disorders prevalent in Pakistan. 2022-2025. HEC (NRPU). PI: Dr. Naveed Altaf Malik, Co-PI: Dr. Muhammad Tariq. Funding Agency: HEC-NRPU, Funding Amount: Rs 17.2 M.
  2. Elucidation of the Genetic Basis of Congenital Heart Defects in Pakistani Population. 2022-2025. PI: Dr. Naveed Altaf Malik, Co-PI: Dr. Muhammad Tariq.  Funding Agency: Pakistan Science Foundation. Funding Amount: Rs 8.8 M.
  3. Developing “drugable’’ CRISPR/Cas9 for treating β-thalassemia and sickle cell anaemia. 2021-2024. PI: Dr. Afsar Mian Aga Khan University, Co-PI: Dr. Naveed Altaf Malik, NIBGE. Funding Agency: HEC Great Challenge Fund. Funding Amount: Rs 160 M.


Research Publications


  1. Ahmad, I., Lokau, J., Kespohl, B., Malik, N.A., Baig, S.M., Hartig, R., Behme, D., Schwab, R., Altmüller, J., Jameel, M. and Mucha, S., 2023. The interleukin-11 receptor variant p. W307R results in craniosynostosis in humans. Scientific Reports13(1), p.13479.
  2. Saadi, S.M, Cali, E., Khalid, L.B., Yousaf, H., Zafar, G., Khan, H.N., Sher, M., Vona, B., Abdullah, U., Malik, N.A., Klar, J., Efthymiou, S., Dahl, N., Houlden, H., Toft, M., Baig, S.M., Fatima, A., Iqbal, Z. Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders. Genes (Basel). 2023 Jul 6;14(7):1404. doi: 10.3390/genes14071404. PMID: 37510308; PMCID: PMC10379343.
  3. Khan, A., Tian, S., Tariq, M., Khan, T., Safeer, M., Ullah, N., Akbar, N., Javed, I., Asif, M., Ahmad, I., Ullah, S., Satti, H. S., Khan, R., Naeem, M., Ali, M., Rendu, J., Fauré, J., Dieterich, K., Latypova, X., Baig, S. M., Malik, N. A., Zhang, F., Khan, T. N., Liu, C. 2022. NGS driven molecular diagnosis of heterogeneous hereditary neurological disorders reveal novel and known variants in disease causing genes. Mol Genet Genomics. 297(6):1601-1613.
  4. Tariq, M., Malik, N. A., Ahmad, I., Waseem, S. S., Baig, S. M. Genetic Testing for Rare Genetic Disorders, Omics Technologies for Clinical Diagnosis and Gene Therapy: Medical Applications in Human Genetics. 2022 1: 14.
  5. Shumaila Zulfiqar, Tariq, M., Malik, N. A., Khan, A., Ramzan, S., Iqbal, M., Anjum, I., Baig, S. M. Genetic Counseling in Inherited Disorders, Omics Technologies for Clinical Diagnosis and Gene Therapy: Medical Applications in Human Genetics. 2022 1:45,
  6. Waseem, S. S., Moawia, A., Budde, B., Tariq, M., Khan, A., Ali, Z., Khan, S., Iqbal, M., Malik, N. A., Haque, S., Altmüller, J., Thiele, H., Hussain, M. S., Cirak, S., Baig, S. M., Nürnberg, P. 2021. A homozygous AKNA frameshift variant is associated with microcephaly in a Pakistani family. Genes. 12(10):1494.
  7. Kaygusuz, E., Khayyat, A. I. A., Abdullah, U., Budde, B., Asif, M., Ahmad, I., Makhdoom, E. H., Sur, I., Baig, J. M., Khan, M. M. A., Toliat, M. R., Becker, C., Anwar, H., Iqbal, M., Fischer, S., Jameel, M., Sher, M., Tariq, M., Malik, N. A., Noegel, A. A., Hassan, M. J., Thiele, H., Tinschert, S., Eichinger, L., Höning, S., Baig, S. M., Nürnberg, P., Hussain. M. S. 2021. A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Clin Genet. 100:486-488.
  8. Khan, N. M., Hussain, B., ChenQing, Z., Khan, A., Masoud, M. S., Gu, Q., Qiu, L., Malik, N. A., Qasim, M., Tariq, M., Chang, J. 2021. Updates on clinical and genetic heterogeneity of ASPM in 12 autosomal recessive primary microcephaly families in Pakistani population. Front Pediatr. 6; 9:695133.
  9. Ketley, A., Wojciechowska, M., Ghosh, T. K., Morato, M. L., Sedehizadeh, S., Malik N. A., Tang, Z., Powalowska, P., Tanner, M., Clark, R. B., Trueman, R. C., Geiszler, P. C., Agostini, A., Othman, O., Bösche, M., Bantscheff, M., Rüdiger, M., Drewry, D. H., Thornton, C. A., Drewes, G., Uings, I., Hayes, C. J., Brook, D. J. 2020. CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse model. Science Translational Medicine. 12(541): eaaz2415.
  10. Sukumaran, S. K., Stumpf, M., Salamon, S., Ahmad, I., Bhattacharya, K., Fischer, S., Müller, R., Altmüller, J., Budde, B., Thiele, H., Tariq, M., Malik, N. A., Nürnberg, P., Baig, S. M., Hussain, M. S., Noegel, A. 2017. CDK5RAP2 interaction with components of the Hippo signaling pathway and its potential impact on primary microcephaly. Mol. Genet. and Genome. 292(2):365-383.  
  11. Jameel, M., Klar, J., Tariq, M., Moawia, A., Malik, N. A., Waseem, S. S., Abdullah, U., Khan, T. N., Raininko, R., Baig, S. M., Dahl, N. 2014. A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical variability in AP-4 deficiency. BMC Med Genet. 15:133.
  12. Klar, J., Hisatsune, C., Baig, S. M., Tariq, M., Johansson, A. C. V., Rasool, M., Malik, N. A., Sugiura, Lars Feuk, K., Mikoshiba, K., Dahl, N. 2014. Abolished InsP3R2 function inhibits sweat secretion in both humans and mice. J. Clin Invest. 124(11):4773-80.
  13. Raykova, D., Klar, J., Azhar, A., Khan, T. N., Malik, N. A., Iqbal, M., Tariq, M., Baig, S. M., Dahl, N. 2014. Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. PLoS One. 9(4): e93607.  
  14. Khan, T. N., Klar, J., Tariq, M., Malik, N. A., Baig, S. M., Dahl, N. 2014. Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation. Eur J. Hum Genet. 22:1180-4.
  15. Ghaffar, A., Rahman, M., Malik, N, A., Malik, I. R., Shah, M. S., Qureshi, J. A. 2014.  Isolation and characterization of Mycobacterium tuberculosis strain: Construction of recombinant fusion protein for control of tuberculosis. African journal of microbiology research. 8(44): 3716-3725.
  16. Hussain, M. S., Baig, S. M., Neumann, S., Peche, V. S., Nurnberg, G., Tariq, M., Jameel, M., Khan, T. N., Fatima, A., Malik, N. A., Ahmad, I., Altmuller, J., Frommolt, P., Thiele, H., Hohne, W., Yigit, G., Wollnik, B., Neubauer, B. A., Nurnberg, P. J., Noegel, A. A. 2013. CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. Hum Mol Genet. 20;22(25):5199-214.
  17. Khan, T. N., Klar, J., Nawaz, S., Jameel, M., Tariq, M., Malik, N, A., Baig, S. M., Dahl, N. 2012. Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I). BMC Med Genet.13; 13:120.
  18. Nawaz, S., Tariq, M., Ahmad, I., Malik, N, A., Baig, S. M., Dahl, N., Klar, J. 2012. Non-bullous congenital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12. Eur J. Dermatol. 22(2):178-81.
  19. Nasreen, F., Malik, N, A., Qureshi, J. A., Raadsma, H. W., Tammen, I. 2012. Identification of a null allele in genetic tests for bovine leukocyte adhesion deficiency in Pakistani Bos indicus × Bos taurus cattle. Mol. Cell. Probes. 26 (6): 259-262.
  20. Riaz, M. N, Malik, N, A., Nasreen, F. and Qureshi, J. A., Khan, S. H. 2012. Genetic variability in the kappa-casein gene in Sahiwal, Cholistani and Red Sindhi cattle breeds. International Journal of Dairy Technology. 65(2):208-211.
  21. Rehman, S., Baig, S. M., Eiberg, H., Rehman, S., Ahmad, I., Malik, N, A., Tommerup, N., Hansen, L. 2011. Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel. Neurogenetics. 12(3):247-51.
  22. Nasreen, F., Malik, N, A., Riaz, M. N., Qureshi, J. A. 2009. Detection and screening of bovine leukocyte adhesion deficiency in Pakistan using molecular methods. Hereditas. 146(2):74-8.
  23. Riaz, M. N., Tahir, M., Malik, N, A., Babar M. E., Nadeem, A., Nasreen, F., Sadaf, S., Qureshi, J. A. 2009. Molecular analysis of bovine growth hormone gene polymorphism in Nili-Ravi buffaloes of Pakistan. Pakistan J. Zool. Suppl. 2: 47-54.
  24. Aslam, M. A., Awan, F. R., Tauseef, I., Ahmed, N., Malik, N, A., Riaz, M. N., Qureshi, J. A. 2008. Identification of hepatitis B virus core mutants by PCR-RFLP in chronic hepatitis B patients from Punjab, Pakistan. Archives of Virology. 153(1):163-70.
  25. Riaz, M. N, Malik, N, A., Nasreen, F. and Qureshi, J. A. 2008. Molecular marker assisted study of kappacasein gene in NILI-RAVI (Buffalo) breed of Pakistan. Pakistan Veterinary Journal. 28 (3): 103-106.


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