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Department of human Genetics was established on June 12, 2007, to study the genetic diversity and ecology of human population and rare genetic diseases in various ethnic and isonym groups. The programme was started to produce competent manpower in the subject of Medical Genetics as medical teachers, researchers and genetic counselors.
The training in the Human Disease Genetics aims to provide candidates with the requisite expertise in the concepts, approaches, and molecular biology techniques of basic and clinical genetic research. The programme provides students with a solid foundation through coursework, rigorous training in research and opportunities to develop communication and presentation skills. Basic understanding of the subject facilitates the development of independent investigators and teachers in the subject. The Department offers MPhil and PhD degree programs.

  1. Establishment of a centre that will provide the detailed information about the field of study both at basic and clinical level with continuous curriculum update.
  2. To provide facilities for advanced studies and research leading to M.Phil/Ph.D. in the areas of human genetics that includes molecular biology, cytogenetic, population medical and clinical genetics.
  3. To study the genetic diversity and ecology of human population, particularly of common and rare genetic diseases in Pakistan.
  4. To develop trained manpower able to make diagnosis based upon the basic knowledge of disease genetics.
  5. To develop skilled human resources for genetic counseling regarding genetic disorders caused due to consanguinity in our population.
Working Facilities

Books and computing facilities

The department has a pretty good collection of books and user manuals in the field of human genetics and molecular biology. To upgrade their knowledge the students are encouraged to consult latest research papers. Facility of online journals is accessible to them not only in the main library but in the department as well. To increase the understanding of biological processes the biological data must be combined to form a comprehensive picture of these activities. For this purpose online freely available bioinformatics sites for databases and data analysis soft wares need to be used. Computers having full access to these sites are available in the department to facilitate the students.

Laboratory facilities and techniques

Following Laboratory facilities and techniques are available to identify the genetic determinants of complex disease traits by carrying out well-powered linkage and association studies in Pakistani population to detect novel disease loci. Further to Identify genes and variants contributing to various genetic disorders common in our population and to detect rare structural changes in chromosomes to identify the causes of certain inherited disorders in the pediatric population.

Sample collection (Human & Animal), Karyotyping, DNA/RNA extraction, Electrophoresis (agarose and PGAE), Cloning, hybridization, Southern/ Northern/Western blotting, Polymerase Chain Reaction (PCR) of all types i.e. Conventional, RT PCR & ARMS PCR, Restriction digestion & RFLP, cDNA synthesis, SSCP analysis, DNA mobility shift assay, Expression analysis, DNA sequencing, Primer designing, Pedigree construction and trait analysis, homozygosity mapping, haplotype analysis.

Employing these techniques all research projects are designed under following four main domains

  1. "Genetics of rare/common single gene disorders"
  2. "Genetic association studies of multifactorial diseases"
  3. "Genetic basis of resistance/susceptibility to diseases"
  4. "Pathways involved in iron induced oxidative stress in different metabolic diseases"

Future Plans
  • To improve the number of M. Phil. And PhD scholars in the department.
  • To upgrade the department by providing state of the art lab facilities for advance research and practical training in Molecular Genetics including cancer.
  • To establish a laboratory to provide rapid genetic testing in different hereditary diseases.

Research Activities

Research Projects (Completed & Ongoing)
Projects in Progress:
  • "Analysis Of Inhibin Alpha (769G>A) Gene Mutations In Patients With Premature Ovarian Failure"
  • "Sequence Analysis of Bone Morphogenetic Protein 15 (BMP15) Gene In Patients of Premature Ovarian Failure (POF)"
  • "DC-SIGN, -336A/G Genotyping of Patients with Dengue Fever and Dengue Hemorrhagic Fever"
  • "Genetic basis of cataract through linkage analysis in families from Balochistan"
  • "Transcriptional and Translational Regulation of Hepatic Glutaredoxin-5 Gene during LPS-Induced Acute Phase Reaction"
  • "A possible role of IL-6 in regulating hepatic ferrochelatase gene expression during LPS induced acute phase reaction in rats"
  • "Analysis of Genetic Factors Contributing to Urolithiasis in the Pakistani Population"
  • "Analysis of TCRC? promoter polymorphism (-560 C/T) in IgA nephropathy patients"
  • "Role of rs1934179 polymorphism (G/A) of DGKK gene in patients with hypospadias"
  • "Identification of disease causing gene through linkage analysis of families with congenital nephrotic syndrome"
  • "Molecular Genetics Studies in Pakistani Families with autosomal recessive primary microcephaly"
  • "Molecular Genetics of Pakistani families with Schizophrenia"
  • "Association of ACE (I/D) gene polymorphism in vitiligo and endometeriosis"

Research Publications of Human Genetics

  • Shahzad K, Bock F, Al-Dabet MM, Gadi I, Kohli S, Nazir S, Ghosh S, Ranjan S, Wang H, Madhusudhan T, Nawroth PP and Isermann B. Caspase-1, but Not Caspase-3, Promotes Diabetic Nephropathy. J Am Soc Nephrol. 2016;27:2270-5.

  • Shahzad K, Bock F, Al-Dabet MM, Gadi I, Nazir S, Wang H, Kohli S, Ranjan S, Mertens PR, Nawroth PP and Isermann B. Stabilization of endogenous Nrf2 by minocycline protects against Nlrp3-inflammasome induced diabetic nephropathy. Sci Rep. 2016;6:34228.

  • Kohli S, Ranjan S, Hoffmann J, Kashif M, Daniel EA, Al-Dabet MM, Bock F, Nazir S, Huebner H, Mertens PR, Fischer KD, Zenclussen AC, Offermanns S, Aharon A, Brenner B, Shahzad K, Ruebner M and Isermann B. Maternal extracellular vesicles and platelets promote preeclampsia via inflammasome activation in trophoblasts. Blood. 2016;128:2153-2164.

  • Wolter J, Schild L, Bock F, Hellwig A, Gadi I, Al-Dabet MM, Ranjan S, Ronicke R, Nawroth PP, Petersen KU, Mawrin C, Shahzad K and Isermann B. Thrombomodulin-dependent protein C activation is required for mitochondrial function and myelination in the central nervous system. J Thromb Haemost. 2016;14:2212-2226.

  • Madhusudhan T, Wang H, Dong W, Ghosh S, Bock F, Thangapandi VR, Ranjan S, Wolter J, Kohli S, Shahzad K, Heidel F, Krueger M, Schwenger V, Moeller MJ, Kalinski T, Reiser J, Chavakis T and Isermann B. Defective podocyte insulin signalling through p85-XBP1 promotes ATF6-dependent maladaptive ER-stress response in diabetic nephropathy. Nat Commun. 2015;6:6496.

  • Dong W*, Wang H*, Shahzad K*, Bock F, Al-Dabet MM, Ranjan S, Wolter J, Kohli S, Hoffmann J, Dhople VM, Zhu C, Lindquist JA, Esmon CT, Grone E, Grone HJ, Madhusudhan T, Mertens PR, Schluter D and Isermann B. Activated Protein C Ameliorates Renal Ischemia-Reperfusion Injury by Restricting Y-Box Binding Protein-1 Ubiquitination. * equal contributing first author J Am Soc Nephrol. 2015;26:2789-99.

  • Shahzad K, Bock F, Dong W, Wang H, Kopf S, Kohli S, Al-Dabet MM, Ranjan S, Wolter J, Wacker C, Biemann R, Stoyanov S, Reymann K, Soderkvist P, Gross O, Schwenger V, Pahernik S, Nawroth PP, Grone HJ, Madhusudhan T and Isermann B. Nlrp3-inflammasome activation in non-myeloid-derived cells aggravates diabetic nephropathy. Kidney Int. 2015;87:74-84.

  • Bock F, Shahzad K, Vergnolle N and Isermann B. Activated protein C based therapeutic strategies in chronic diseases. Thromb Haemost. 2014;111:610-7.

  • Wang H, Vinnikov I, Shahzad K, Bock F, Ranjan S, Wolter J, Kashif M, Oh J, Bierhaus A, Nawroth P, Kirschfink M, Conway EM, Madhusudhan T and Isermann B. The lectin-like domain of thrombomodulin ameliorates diabetic glomerulopathy via complement inhibition. Thromb Haemost. 2012;108:1141-53.

  • Munir Ahmad Bhinder, Muhammad Yasir Zahoor, Haleema Sadia, Muhammad Qasim, Rukhsana Perveen, Ghulam Murtaza Anjum, Muhammad Iqbal, Najeeb Ullah, Ali Muhammad Waryah (2018). SE33 locus as reliable genetic marker for forensic DNA analysis system. Accepted in Turkish Journal of Medical Sciences.

  • Munir Ahmad Bhinder (2017). Consanguineous Marriage: A Peril for Coming Generation. Journal of Genetic Disorders. Vol.1 No.1:08.

  • Sadaqat Ijaz, Muhammad Yasir Zahoor, Muhammad Imran, Khushnooda Ramzan, Munir Ahmad Bhinder, Hussain Shakeel, Muhammad Iqbal, Asim Aslam, Wasim Shehzad, Huma Arshad Cheema, Habib ur Rehman (2017). Genetic analysis of FBPase deficiency in nine consanguineous Pakistani families. Journal of pediatric endocrinology & metabolism: 30 (11):1203-1210.

  • Munir Ahmad Bhinder, Muhammad Waqar Arshad, Muhammad Yasir Zahoor, Wasim Shehzad, Muhammad Tariq and Muhammad Imran Shabbir (2017). Junctional Epidermolysis Bullosa (non-Herlitz type). Journal of College of Physicians and Surgeons of Pakistan. 27 (5): 308-310

  • Muhammad Iqbal, Muhammad A. Baig, Munir A. Bhinder, Muhammad Y. Zahoor (2016). Factors causing mental retardation. Asian Journal of Natural & Applied Sciences: 5(3) : 28-37

  • Sadaqat Ijaz, Muhammad Yasir Zahoor, Muhammad Imran, Sibtain Afzal, Munir A. Bhinder, Ihsan Ullah, Huma Arshad Cheema, Khushnooda Ramzan and Wasim Shehzad (2016). Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation. Journal of pediatric endocrinology & metabolism: JPEM 29(3):327-32

  • Munir Ahmad Bhinder, Muhamad Iqbal, Muhammad Shahbaz, Muhammad Yasir Zahoor, Muhammad Wasim (2015) Avian Biodiversity of Bajwat wetland District Sialkot. The Journal of Animal and Plant Sciences. 25(3 Supp. 2) 2015 Special Issue. Page: 416-422

  • Shakeela Daud, Saqib Shahzad, Muhammad Shafique, Munir Ahmad Bhinder, Muhammad Niaz, Asif Naeem, Azam Ali, Zia-ur-Rehman, Tayyab Husnain. (2014). Optimization and validation of PCR for three hypervariable regions (HVI, HVII and HVIII) in human mitochondrial DNA. Advancements in life sciences. 1(3): 165-170

  • Shahzad M, Sivakumaran TA, Qaiser TA, Schultz JM, Hussain Z, Flanagan M, Bhinder MA, Kissell D, Greinwald JH Jr, Khan SN, Friedman TB, Zhang K,Riazuddin S, Riazuddin S, Ahmed ZM (2013). Genetic Analysis through OtoSeq of Pakistani Families Segregating Prelingual Hearing Loss. Otolaryngol Head Neck Surg. (June 2013) 149(3):478-87.

  • Ali M Waryah, Zubair M Ahmed, Munir A Bhinder, Daniel I Choo, Robert A Sisk, Mohsin Shahzad, Shaheen N Khan, Thomas B Friedman, Sheikh Riazuddin and Saima Riazuddin. (2011) Molecular and clinical studies of X -linked deafness among Pakistani families. Journal of Human Genetics. 56(7):534-40

  • Byung Yoon Choi, Zubair M. Ahmed, Saima Riazuddin, Munir A. Bhinder, Mohsin Shahzad, Tayyab Husnain, Sheikh Riazuddin, Andrew J Griffith, Thomas B Friedman (2009). Identities and frequencies of mutations of the Otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan. Clinical Genetics 75(3):237-243.

  • Byung Y choi, Saima Riazuddin, Zubair M Ahmed, Uzma Shaukat, Munir A. Bhinder, Shahid Y. Khan, Sheikh Riazuddin, John A. Butman, Andrew J. Griffith, Thomas B. Friedman. (2010) Variable Expressivity of FGF3 Mutations Associated with Deafness and LAMM Syndrome. Abstract# 1006, Volume:33 Page: 345 [Abstract published in Abstract book of 33rd ARO midwinter meeting, in Anaheim, USA]

  • Shahzad M, Sivakumaran TA, Qaiser TA, Schultz JM, Hussain Z, Flanagan M, Bhinder MA, Kissell D, Greinwald JH Jr, Khan SN, Friedman TB, Zhang K,Riazuddin S, Riazuddin S, Ahmed ZM (2013). Genetic Analysis through OtoSeq of Pakistani Families Segregating Prelingual Hearing Loss. Otolaryngol Head Neck Surg. 149(3):478-87.

  • Raza A, Firasat S, Khaliq S, Abid A, Shah SS, Mehdi SQ, Mohyuddin A. (2013) HLA class I and II polymorphisms in the Gujjar population from Pakistan. Immunol Invest. 42(8):691-700.

  • Ahmad, G., Ramadori, P., Martius, G., Sial, G.Z. and Ramadori, G., Transcriptional and translational regulation of HO-1 in the liver and muscle of TO- & LPS-treated IL-6 knockout mice., Antioxidants & Redox Signaling., Article in review.

  • Fatima S, Usman Z, Ali A, Mehmood S, Khaliq S. (2013) Analysis Of Inhibin Alpha (769g>A) Gene Mutations in Patients with Premature Ovarian Failure; Int. Conf. App. Mol. Biol. Med. pp98.

  • Usman Z, Fatima S, Ali A, Mehmood S, Khaliq S. (2013) Sequence analysis of Bone Morphogenetic Protein 15 (BMP15) Gene in patients of Premature Ovarian Failure. Int. Conf. App. Mol. Biol. Med. pp141.

  • Ejaz H, Ul-Haq I, Mahmood S, Zafar A, Mohsin Javed M.(2013) Detection of extended-spectrum ?-lactamases in Klebsiella pneumoniae: comparison of phenotypic characterization methods. Pak J Med Sci. 29(3):768-72.

  • Firasat S, Raza A, Abid A, Aziz T, Mubarak M, Naqvi SA, Rizvi SA, Mehdi SQ, Khaliq S. The effect of chemokine receptor gene polymorphisms (CCR2V64I, CCR5-59029G>A and CR5?32) on renal allograft survival in Pakistani transplant patients. Gene. 11(2):314-319 (2012).

  • Prasov L, Masud T, Khaliq S, Mehdi SQ, Abid A, Oliver ER, Silva ED, Lewanda A, Brodsky MC, Borchert M, Kelberman D, Sowden JC, Dattani MT, Glaser T. ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous. Hum Mol Genet. 21(16)3681-3694 (2012).

  • Abid A, Khaliq S, Shahid S, Lanewala A, Mubarak M, Hashmi S, Kazi J, Masood T, Hafeez F, Naqvi SA, Rizvi SA, Mehdi SQ. A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. Gene. 2012 Jul 10;502(2):133-7. Epub 2012 Apr 28.

  • Ajaz S, Khaliq S, Hashmi A, Rizvi SAH, Mehdi SQ. Polymorphisms in the Methylene Tetrahydrofolate Reductase Gene and their Unique Combinations are Associated with an Increased Susceptibility to the Renal Cell Carcinomas. Genet Test Mol Biomarkers. May;16(5):346-352 (2012).

  • Shahid S, Abid A, Mehdi SQ, Firasat S, Lanewala A, Naqvi SAA, Rizvi SAH, Khaliq S. Association of the ACE - II genotype with the risk of nephrotic syndrome in Pakistani children, Gene. 493:165-168 (2012).

  • Hajan S.S, Abid A, Shahid S, Khaliq S. Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair/hypotrichosis phenotype. J Pak Med Assoc. 61( 11) :1060-1064 (2011).

  • Ajaz S, Khaliq S, Abid A, Hassan AS, Hashmi A, Sultan G, Mohsin R, Mubarrak M, Naqvi SA, Rizvi SA, Mehdi SQ. Association of a Single-Nucleotide Polymorphism in the Promoter Region of the VEGF Gene with the Risk of Renal Cell Carcinoma. Genet Test Mol Biomarkers. 15(9): 653-657(2011).

  • Abid A, Akhtar N, Khaliq S, Mehdi SQ. Genetic heterogeneity for autosomal dominant familial hypertrophic cardiomyopathy in a Pakistani family. J Coll Physicians Surg. Pak. Apr;21(4):202-206. (2011).


Dr. Shagufta Khaliq
  • Professor and Head of the Department
  • Pride of Performance
  • M.Sc., Ph.D
  • Ph: +9242-111 333 366 Ext: 320

Dr. Inayat Ullah
  • Assistant Professor

Dr. Munir Ahmad
  • Assistant Professor
  • M.Phil. Ph.D.

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