Name: Dr. Sabika Firasat
Designation: Associate Professor
Department: Zoology



Post-doctorate (Molecular Biology)

Institute of Clinical Chemistry / UMG-Laboratories, Georg August University, Göttingen, Germany.


Ph.D. (Molecular Biology) (Specialization in Human Genetics)

Centre of Excellence in Molecular Biology (CEMB), University of the Punjab, Lahore, Pakistan.


M.Phil. (Molecular Biology) (Specialization in Human Genetics)

Centre of Excellence in Molecular Biology (CEMB), University of the Punjab, Lahore, Pakistan.


M.Sc. (Zoology)

Department of Zoology, University of the Punjab, Lahore, Pakistan

Phone: +92-51 9064-3209
Status: On Job
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Research Interests Publications Conferences Research Projects

Investigating the molecular and genetic basis of inherited eye disorders (Glaucoma, retinal and corneal dystrophies etc), inborn errors of metabolism, intellectual disabilities and cancers.

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Impact Factor


Gul, B., Firasat, S., Tehreen, R., Shan, T and Afshan, K. (2022). Analysis of Wilson disease

mutations in copper binding domain of ATP7B gene. PLOS ONE 17(6):




Naz, S., Ibrahim, N., Sharif, S., Bashir, N., Sajjad, E., Asghar, I., Irshad, S., Firasat, S., Kaul, H.

and Sarwar, S., 2021. Prevalence and Association of Different Levels of Intellectual Disability

with Prenatal, Perinatal, Neonatal and Postnatal Factors: Prevalence and association of levels of

ID. Proceedings of the Pakistan Academy of Sciences: B. Life and Environmental

Sciences, 58(3), pp.75-82.



Shahid, M., Azfaralariff, A., Zubair, M.,  Ahmed Najm, A., Khalili ,N., Law D., Firasat , S.,Fazry, S. (2022) In silico study of missense variants of FANCA, FANCC and FANCG genes reveals high risk deleterious alleles predisposing to Fanconi anemia pathogenesis. Gene.DOI: 10.1016/j.gene.2021.146104.



Komal, M., Afshan, K., Firasat, S., Fuentes, M.V. (2021) Molecular identification of Paramphistomum epiclitum (Trematoda: Paramphistomidae) infecting buffaloes in an endemic area of Pakistan. The Thai Journal of Veterinary Medicine51(3), 431–439.



Afshan, K, Ahmad, I., Komal, M., Firasat, S., Khan, I. A., Qayyum, M. (2021) Diagnostic Efficacy of Copro-ELISA for Detection of Fasciolosis in Cattle and Buff aloes in Punjab Province, Pakistan. Kafkas Univ Vet Fak Derg 27 (4): 533-538.



Firasat, S., Shawar, D., Khan, W. A., Sughra, U., Nousheen., Kaul, H., Naz, S., Naureen, B., Gul, R., Afshan, K. (2021). SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families. Molecular Biology Reports. 48(11):7467-7476.



Ahmad, W., Firasat, S., Akhtar, M.S., Afshan, K., Jabeen, K., Amjad, R.A. (2021).  Demographic variation and risk factors regarding breast cancer among female in Southern Punjab, Pakistan. Accepted for publication in Journal of Pakistan Medical Association. 71 (7),1749-1756.



Noor, N., Firasat, S., Bano, N., Afshan, K., Gul, B., Kaul, H. (2021). Frequency, clinical profile and screening of exon 6 and 14 of ABCB4 gene in obstetric cholestasis patients presented at a tertiary care hospital in Rawalpindi, Pakistan. Journal of Pakistan Medical Association. 71(6), 1633-1638.



Khan, M.A., Afshan, K., Nazar, M., Firasat, S., Chaudhry, U., Sargison, N.D. (2021). Molecular confirmation of Dicrocoelium dendriticum in the Himalayan ranges of Pakistan. Parasitology International. 81, 102276.



Shahzadi, M., Firasat, S., Kaul, H., Afshan, K., Afzal, R., Naz, S. (2020). Genetic mapping of autosomal recessive microspherophakia to chromosome 14q24.3 in a consanguineous Pakistani family and screening of exon 36 of LTBP2 gene. Journal of Pakistan Medical Association. 70(3): 515-518.



Shahid, M., Firasat, S., Satti, H.S., Satti, T.M., Ghafoor, T., Sharif, I., Afshan, K. (2020). Screening of the FANCA gene mutational hotspots in the Pakistani fanconi anemia patients revealed 19 sequence variations. Congenital Anomalies. 60: 32-39.



Naz, S., Shafique, N., Sharif, S., Manzoor, F., Saifi, S.Z., Firasat, S., Kaul, H. (2020). Association of Interleukin 10 (IL-10) Gene with Type 2 Diabetes Mellitus by Single Nucleotide Polymorphism of Its Promotor Region G/A 1082. Critical ReviewsTM in Eukaryotic Gene Expression, 30(4):285–289.



Rehman, S., Afshan, K., Razzaq, A., Hussain, M., Firasat, S. (2020), Anthelmintic efficiency of synthetic and herbal compounds against gastrointestinal nematodes in naturally infected goats. Kafkas Univ Vet Fak Derg, 26 (6): 813-816.



Ullah, S., Afshan, K., Arshad, M., Firasat, S. (2020) "Genetic Characterization of Gigantocotyle explanatum from Buffaloes in Northwestern Pakistan." Kafkas Univ Vet Fak Derg. 26(2):225-230.



Gul, R., Firasat, S., Hussain, M., Afshan, K., Nawaz, D. (2020) IDUA gene mutations in mucopolysaccharidosis type-1 patients from two Pakistani inbred families. Congenital Anomalies. 60: 126-127.



Afshan, K., Kabeer, S., Firasat, S., Jahan, S., Qayyum. M. (2020).  "Seroepidemiology of human fascioliasis and its relationship with anti-Fasciola IgG and liver enzymes as biomarkers of pathogenicity." African Health Sciences.  20 (1): 208-218.



Khan, I., Afshan, K., Shah, S., Akhtar, S., Komal, M., Firasat, S. (2019)."Morphological and Molecular Identification of Paramphistomum epiclitum from Buffaloes in Pakistan." Acta Parasitologica. 65: 225-236.




Shahid, M., Firasat, S. (2019). FANCA and contribution of studies from Asian populations to the understanding of FANCA mediated fanconi anemia. Genetika. 51(3): 1197-1225.



Nazar, M., Afshan, K., Ali, R., Firasat, S. (2019) "Prevalence and associated risk factors of amphistomiasis in buffaloes from Pakistan”. Buffalo Bulletin. 38 (4): 613-619.



Afzal, R., Firasat, S., Kaul, H., Ahmed, B., Siddiqui, S.N., Zafar, S.N., Shahzadi, M., Afshan, K. (2019). Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3’ splice acceptor site of intron 2. Congenital Anomalies. 59: 152-161.



Khan, B., Afshan, K., Firasat, S., Qayyum, M. (2019). Seroprevalence and associated risk factors of Entamoeba histolytica infection among gastroenteritis patients visiting the public healthcare system, Pakistan. Journal of Pakistan Medical Association.  69 (12): 1777-1784.



Firasat, S., Kaul, H., Ashfaq, U.S., Idrees, S. (2018). In silico analysis of five missense mutations in CYP1B1 gene in Pakistani families affected with primary congenital glaucoma. Int. Ophthalmol. 38(2): 807-814.



Zaman, S., Afshan, K., Firasat, S., Jahan, S.and Qayyum, M. (2018) Measurement of Ascaris lumbricoides IgG antibody,associated risk factors and identification of serum biochemical parameters as biomarkers of pathogenicity: among patients with gastrointestinal complains in Pakistan. Tropical Biomedicine 35(1): 1–16.



Kosar, S., Afshan, K., Salman, M., Rizvi, S.S.R., Naseem, A.A., Firasat, S., Jahan, S., Miller, J.E. and Qayyum, M (2017) Prevalence and risk factors associated with intestinal parasitic infections among schoolchildren in Punjab,Pakistan. Tropical Biomedicine 34(4): 770–780.



Rauf, B., Iram, B., Kabir, F., Firasat, S., Naeem, M.A., Khan, S.N., Husnain, T., Riazuddin, S., Akram, J and Riazuddin, S.A. (2016) A spectrum of CYP1B1 mutations associated with primary congenital glaucoma families of Pakistani descent. Human Genome Variation. 4; 3:16021.



Shakil, M., Ikramullah, M., Hussain, S., Firasat, S., Mahmood, S., Kaul, H. (2016) Homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene. International Journal of Ophthalmology. 9(5): 794-796.



Firasat, S., Hecker, M., Binder, L., Asif, A.R. (2014) Advances in endothelial shear stress proteomics. Expert Review of Proteomics. 11: 611-619.



Ali, M., McKibbin, M., Booth, A., Parry, D.A., Jain, P., Riazuddin, S.A., Hejtmancik, J.F., Khan, S.N., Firasat, S., Shires, M., Gilmour, D.F., Towns, K., Murphy, A., Azmanov, D., Tournev, I., Cherninkova, S., Jafri, H., Raashid, Y., Toomes, C., Craig, J., Mackey, D.A., Kalaydjieva, L., Riazuddin, S., Inglehearn, C.F. (2009) Null Mutations in LTBP2 Cause Primary Congenital Glaucoma.clear AJHG.84 (5): 664-671.



Firasat, S., Riazuddin, S.A., Hejtmancik, J.F. and Riazuddin, S. (2008) Primary congenital glaucoma localizes to chromosome 14q24.2-q24.3 in two consanguineous Pakistani families. Mol. Vis. 14: 1659-1665.



Firasat, S., Riazuddin, S.A., Khan, S.N. and Riazuddin, S. (2008) Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma. Mol. Vis. 14: 2002-2009.


Conference Presentations (Oral):

1.      S. Firasat, Rabia Afzal, Haiba Kaul, Bashir Ahmed, Kiran Afshan. (2018) Molecular Characterization of CYP1B1 Gene in Pakistani Primary Congenital Glaucoma Patients: Identification of Five Known and a Novel Point Mutation at 3’ Splice Acceptor Site of intron 2. Proceedings of International Agricultural, Biological and Life Science (AGBIOL) Conference. Held on 2-5th September, 2018 at Trakya University, Edirne, Turkey.

2.     M. Shahid, S. Firasat. (2018) Identification of mutations in selected exons of FANCA gene in a cohort of Pakistani FA patients. Proceedings of 3rd International Conference on Biosciences (ICBS). Held on 9-11th May, 2018 at Government College University, Lahore. Pakistan.

1.      D. Ziegler, S. Khaliq, S. Firasat, K. Pantakani, L. Binder, A. Asif. (2015) Novel mutations in Pakistani population in the major Fanconi anemia gene “FANCA” Congress of Clinical Chemistry and Laboratory Medicine (CCLM).Volume 53, Issue 11, Pages eA93–eA175, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621.

Conference Presentations (Poster):
S. Firasat, R. Afzal, H. Kaul, B. Ahmed. (2018) Analysis of the CYP1B1 gene in primary congenital glaucoma cases from Pakistan: Identification of a novel 3’ splice acceptor site mutation. Laboratory Medicine Congress and Exhibition (LMCE) & Korean Society of Laboratory Medicine (KSLM) 59th annual meeting, Seoul, South Korea. November 2018.

H. Kaul, S. Firasat, S. Naz. (2018). Molecular and genetic basis of inherited eye diseases in consanguineous Pakistani families. Laboratory Medicine Congress and Exhibition (LMCE) & Korean Society of Laboratory Medicine (KSLM) 59th annual meeting, Seoul, South Korea. November 2018.

N. Noor, S. Firasat. (2018) Molecular analysis of obstetric cholestasis patients presented at Holy Family hospital, Rawalpindi. Poster session linking patient outcomes to education and training. Association for Excellence in Medical Education (AEME) Conference, Islamabad, Pakistan. March 2018.

N. Ramzan, H. Kaul, M. Dawood, A. Javid, S. Mumtaz, M. Asim, S. Firasat, K. Afshan. (2018) Identification of PIT1 gene polymorphism and its association with milk composition in Holstein and Sahiwal Cattle. Poster session International conference on Omics for Animal Sciences: Opportunities and Challenges. Institute of Biochemistry and Biotechnology, University of Veterinary and Animal Sciences, Lahore, Pakistan. Feburary 2018.
Molecular basis of inherited disorders in local population.

Quaid-i-Azam University Islamabad, 45320, Pakistan.
Tel: +92-51 9064 0000,