Human Genetics group:

Biology of limb defects: In this research area we are conducting clinical and molecular studies on various limb anomalies in order to understand their nature and to classify the types prevalent in our population. Molecular typing and classification would be helpful in genetic counseling and suggesting management and therapeutic alternatives. 

Genetic epidemiology of congenital and hereditary defects: In this research area we intend to explore the spectrum of congenital anomalies in the Pakistani population. Community control and intervention of congenital anomalies is possible by understanding their epidemiology, prevalence and clinical and molecular basis in various ethnic and linguistic isolates of Pakistan. This study would also be helpful in estimating the genetic burden pertaining to these disorders on our society.

Community genetics and consanguinity: The unique socio-cultural setup of Pakistani society favors close and consanguineous marriages. We intend to examine the dynamics of consanguinity and inbreeding coefficient (F) in various populations of Pakistan, and also its impact on the prevalence of congenital anomalies.

We are open for collaborations on studies of common interest. If there is any idea, please discuss: malik@qau.edu.pk

Malik S, Afzal M (2013). Congenital terminal transverse deformity of upper limb: clinical and radiological findings in a sporadic case. JCPSP 23(3):219-220.

Malik S (2012) Syndactyly: phenotypes, genetics and current classification. Eur J Hum Genet 20(8):817-24.

Malik S, Riaz HF (2012) Terminal transverse deficiency of fingers, symbrachydactyly with anonychia of toes, and congenital scalp defect: Case report of a subject with Adams-Oliver syndrome. Pak J Med Sci 28(1):231-234.

VanderMeer JE, Afzal M, Alyas S, Haque S, Ahituv N, Malik S (2012) A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly. Am J Med Genet 158A(8):2031-5.

Malik S, Jabeen N (2011) Zygodactyly with thumb aplasia: an unusual variant in a male subject. J Col Phy Surg Pak 21(11):710-712.

Riaz HF, Malik S (2011) Case report of a neonate with congenital transverse deficiency of hand. Pak J Med Sci 27(5):1177-1180.

Malik S, Afzal M, Gul S, Wahab A, Ahmad M (2010) Autosomal dominant syndrome of camptodactyly, clinodactyly, syndactyly, and bifid toes. Am J Med Genet 152A:2313–2317.

Abbasi AA, Paparidis Z, Malik S, Bangs F, Schmidt A, Koch S, Lopez-Rios J, Grzeschik KH (2010) Human intronic enhancers control distinct sub-domains of Gli3 expression during mouse CNS and limb development. BMC Dev Biol. 10(1):44.

Malik S, Grzeschik K-H (2008) Congenital, low penetrance lymphedema of lower limbs maps to chromosome 6q16.2-q22.1 in an inbred Pakistani family. Hum Genet 123:197–205.

Malik S, Schott J, Schiller J, Junge A, Baum E, Koch MC (2008) Fifth finger camptodactyly maps to chromosome 3q11.2-q13.12 in a large German kindred. Eur J Hum Genet 16(2):265-269.

Malik S, Grzeschik K-H (2008) Synpolydactyly: clinical and molecular advances. Clin Genet 73(2):113-120.

Previous publications record in the CV.

2013. Study of hereditary limb anomalies in the Pakistani population. University Research Fund, QAU Islamabad

2012-13. Phenotypic diversity and genetic differentiation of blood group genes in North-Western populations of Pakistan. Higher Education Commission Islamabad

2012. Genetic epidemiology of congenital and hereditary anomalies in consecutive live-births at Pakistan Institute of Medical Sciences, Islamabad. University Research Fund, QAU Islamabad

2011-12. Genetics lab up gradation under the Institutional Support Program. Pakistan Science Foundation (PSF), Islamabad

2011. Study of congenital and hereditary anomalies in District DG Khan. University Research Fund, QAU Islamabad

2010-12. Genetic epidemiological studies of hereditary skeletal disorders in Punjab. Higher Education Commission, Islamabad.

2010. Study of consanguinity and morbidity in District Muzaffargarh, Punjab. University Research Fund, QAU Islamabad

2009. Study of consanguinity in Districts Multan and Layyeh, Southern Punjab. University Research Fund, QAU Islamabad

2006. Regulation of GLI genes expression. Sponsored by P.E. Kempkes Foundation, Marburg Germany.