Health Sciences

Department of Human Genetics

The Centre for Human Genetics within the School of Heath Sciences has been launched with an aim to conduct multidisciplinary research in Human Genetics. During the past decade, human genetic research has made considerable progress, with advances in high throughput genome analysis techniques and international research infrastructure for human genome information. Especially, genome-wide association studies have identified thousands of genetic variations that are associated with disease susceptibility, response to drugs and nutrients. At present the Centre is in infancy but it is the vision of the Centre to be a premier research unit in the country conducting and promoting groundbreaking research in human genetics. The centre aims to provide diagnostic services for congenital malformations and genetic disorders at the chromosomal, biochemical and molecular level. Counselling will be offered to the affected individuals and also their family members. Our aim is to prevent morbidity and mortality due to the genetic disorders and adult onset disorders. This will be accomplished by: locating and characterizing modifier genes involved in disease severity of various genetic disorders; identifying the candidate genes involved in the pathogenesis of the common chronic diseases; characterizing the amount and utility of DNA variation within and among populations. 
The Centre has the sophisticated equipment for undertaking advanced cytogenetic and molecular genetic analyses. High quality chromosome analysis on a variety of specimens, including amniocenteses, chorionic villi sampling, peripheral blood, bone marrow, tumors, and products of conception will be taken up using Fluorescence In situ Hybridization (FISH) and spectral karyotyping to detect specific abnormalities and to delineate complex karyotypes. Advanced Molecular techniques  are being standardized to offer a variety of testing by direct DNA analyses using PCR-based methodologies, DNA hybridization, methylation analysis, high throughput DNA sequencing, and computer and bioinformation approaches. The centre is also gearing up to carry out prenatal diagnosis and newborn screening in the long run.


  1. Dr. Anjana Munshi, Associate Professor, Centre Coordinator
  2. Dr. Preeti Khetarpal, Assistant Professor

Research Highlights

  1. Genetics of stroke and its subtypes, pharmacogenetics  of stroke
  2. Genetics of epilipesy and pharmacogenetics of epilepsy
  3. Haemoglobinopathies ; Thalassemia and Sickle cell anaemia
  4. Modifier genes in Haemoglobinopathies
  5. Molecular basis of breast cancer
  6. Genetic basis of pre and post natal growth retardation
  7. Chromosomal and molecular basis of Infertility
  8. Chromosomal and molecular basis of common birth defects.



  1. Genetic determinants in ischaemic stroke subtypes: Seven year findings and a review (2015) Munshi A, Da S, Kaul S. Gene 555(2):250-259.
  2. Association of serum trace elements and minerals with genetic generalized epilepsy and idiopathic intractable epilepsy (2014). Prasad DK, Shaheen U, Satyanarayana U, Surya Prabha T, Jyothy A and Munshi A. Neurochem Res. 39(12):2370-6.
  3. Interleukin 1ß (+3954, -511 and -31) polymorphism in chronic periodontitis patients from North India (2014) Amirisetty R,  Patel R P,  Das S,  Saraf J,   Jyothy A,  Munshi  A. Acta odontologica scandinavica DOI: 10.3109/00016357.2014.961958.
  4. Association of -1382A>G CCL11 gene variant with ischemic stroke, its subtypes and hemorrhagic stroke in a South Indian Population (2014) Roy S, Das S,  Sharma V, Kaul S, Jyothy A, Munshi A. Neurology India 62(4):387-392 .
  5. E-selectin gene (S128R) polymorphism in hemorrhagic stroke: comparison with ischemic stroke  (2014) Das S, Roy S, Sharma V, Kaul S, Jyothy A, Munshi A. Neuroscience letters 3;581:125-128 (Impact factor: 2.055)
  6. Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms in the development of IdiopathicGeneralized Epilepsy (2014)Prasad DKV, ShaheenaU ,Satyanarayana U,  SuryaPrabha  T, Jyothy A, Munshi A. Epilepsy Research 39(12):2370-2376  (Impact factor: 2.241).
  7. Association of ACE gene I/D polymorphism and ACE levels with hemorrhagic stroke:comparison with ischemic stroke (2014) Das S, Roy S, Sharma V, Kaul S,  Jyothy A, Munshi A. Neurological Sciences DOI 10.1007/s10072-014-1880-8.
  8. CRP Gene (1059G>C) Polymorphism and Its Plasma Levels in Ischemic Stroke and Hemorrhagic Stroke in a South Indian Population (2014) Das S, Roy S, Kaul S, Jyothy A, Munshi A. Inflammation  37(5):1683-8 (Impact factor: 2.46).
  9. Association of E-selectin Gene Polymorphism (S128R) with Ischemic Stroke and Stroke Subtypes (2014) Roy S, Das S, Danaboina R, Sharma V, Kaul S, Jyothy A and Munshi A. Inflammation 37(2) 599-603.
  10. Association of the genetic variants of insulin receptor substrate 3 1 (IRS1) with type 2 diabetes mellitus in a Saudi population. Alharbi K K,  Khan  I A, Munshi A Alharbi  F K  , Al-Sheikh  Y , Alnbaheen M S (2014) Endocrine DOI 10.1007/s12020-014-0177-2 (Impact factor: 2.25).
  11. Association of Xmn1-158 γ G variant with severity and HbF levelsin β-Thalassemia major and Sickle cell anaemia (2014) Dadheech S, Jain S, Madhulatha D, Sharma V, James Joseph J, Jyothy A, Munshi A. Molecular Biology Reports 41(5):3331-7 (Impact factor: 2.51).

List of the Research Projects Operational in the Centre

  1. Munshi, A. “Amelioration of the Severity of β-thalassemia by Modifier Genes” funded by department of Biotechnology, Government of India, New Delhi (Rs. 37 Lac). (2013-16)
  2. Khetarpal, P. “Genetic investigations among Indian children with Silver Russell syndrome (SRS).” funded by University Grants Commission, New Delhi under Basic Science Research Start up Grant (Rs. 6 Lac). (2014-16).
  3. “The prevalence of thalassemia and mutation spectrum associated with the disease in Malwa Region of Punjab” funded by Central University of Punjab as Research Seed Money (RSM). (3 Lakhs)(2014-16).
  4. Cytogenetic investigaitons in couples of primary infertility from Malwa region of Punjab funded by Central University of Punjab as Research Seed Money (RSM). (3 Lakhs)(2014-16).

List of the Projects Approved

  1. Munshi, A. “In silico screening of all functional genes in human genome for the detection of deleterious SNPs for association studies” funded by Indian Council of Medical Research , Government of India , New Delhi (Rs. 38 Lac). (2015-18)