• M.Sc., Ph.D.

• Total Teaching Experience 14 Years

• Total Research Experience 24 Years

• 35 papers ( 20international and 15 national )

Original Investigations :

  Pepsinogen  polymorphisms  in Indian population and its association with duodenal ulcers”, Hum. Gen. 101:201 - 204pp.1997. 

Ø      “Role of Cathepsin E in duodenal ulcers”, Med. Sci. Res. 25(10): 693-694pp. 1997. 

Ø      “Retinitis pigmentosa co-segregating with enamel hypoplasia (Amelogenesis

         Imperfecta) A new syndrome?”,  Ind. J. Hum.Gen. 6(l&2):51-53pp.2000. 

Ø      “Molecular Genetics of Familial Hypertrophic Cardiomyopathy”, J.Hum Genet . 48(2): 55-64pp. 2003. 

Ø      “Familial Hypertrophic Cardiomyopathy-Molecular analysis in a large kindred  Family”, Eur.J.Hum. Genet. 11 

         (Suppl. 1): 356pp. 2003. 

Ø      “Molecular Analysis of Beta-myosin Heavy Chain Gene in Hypertrophic

         cardiomyopathy”, 10^th Proceedings of the Int Conference of Systemics, Cybernetics  and Informatics.

         Journal of systematics, cybernatics and informatics, 1: 453-457pp. 2004.  

Ø      “Complement C4 - A Genetic marker in Arthritis”, Int.J. Hum Genet. 4 (3):193-196pp. 2004. 

Ø      “Association of Alkaline Phosphatase Phenotypes with Arthritis”, Ind.J.Hum.Genet. 11(1): 5-9pp.2004.

Ø      “Hypertrophic cardiomyopathy: Complex disorder –A need toreclassify?” - A New Report.(Communicated to  

        Ind. J. Hum.Gen-  2005) 

Ø     “Electromorphic association of Alpha-1-antitrypsin with arthritides and alteration of immunomodulatory

         response”, J. Cell. Tissue. Res. 5(2): 409-412pp. 2005. 

Ø      “Etiopathogenesis of  Arrythmogenic Right Ventricular Dysplasia/ Cardiomyopathy”, J.Hum.Genet. 50:375–

        381, 2005.DOI: 10.1007/s10038-005-0273-5 10.1007/s10038-005-0273-5; PMID: 16096717.

       “Malignant course of Hypertrophic Cardiomyopathy in India”, Eur J Hum Genet (may suppl., 2005

Areas of Research Interest :

• Protein and molecular analysis of diseases related to gastrointestinal tract, bone and cardiovascular system.

Current Research Interest :

• Molecular diagnosis & mutation screening of sarcomeric genes, gene mapping, RFLP typing and protein profiling in various multifactorial and single gene disorders.

Research projects handled till date:

• Principal Investigator: "DNA polymorphisms of Pepsinogen I & II and Cathepsin E in Duodenal Ulcers" - (ICMR project)
  Duodenal ulcer is a common gastrointestinal disease with a high frequency in India (about 12%). Hypersecretion of acid, pepsinogen, H.pylori infection and lowered mucosal resistance are major factors in its etiology. This project proposes to investigate the polymorphisms of the protein phenotypes/ DNA haplotypes of the above enzyme in patients and controls, which will advance our understanding of genetic and molecular mechanisms in the etiology of duodenal ulcers and therefore provide a basis for predilection of genetic risks of individuals.
  Ph.D. student: Dr.A.Venkateshwari

• Principal Investigator: "Lipid Peroxidation in Duodenal Ulcers" - (UGC minor project)
  Role of Oxidant and Antioxidant systems in duodenal ulcers was evaluated.
  Ph.D. student: Mrs. S.Sulekha

• Principal Investigator: "Genetic and Biochemical studies in Rheumatoid Arthritis" - (UGC project)
  Rheumatoid Arthritis is a chronic disorder and is characterized by inflammation of the synovial membrane leading to erosion and destruction of the joint cartilage. It is a multifactorial condition and a significant association with genetically inherited Human Leucocyte Antigen (HLA-DR4). The apparent inconsistency between weak rheumatoid arthritis familial aggregation and strong HLA association warrants a closer examination and that familial aggregation of rheumatoid arthritis be reinvestigated in the present study. This may also give a clue to the role of some of the genetic, immunological and biochemical risk factors in the etiology of the condition.
  Ph.D. student: Mrs.A.Padmini

• Principal Investigator: "Molecular Pathology of Cardiomyopathies" - (DBT project)
  Cardiomyopathies are a heterogeneous group of heart muscle disorders leading to morbidity and premature deaths in children and adults. They are mostly familial with heterogeneous expression and unique pathophysiology. Mutations in the sracomeric proteins have been identified as the molecular basis for the disease and also for the clinical heterogeneity involved. This project is therefore an attempt to identify the genetic, epidemiological and molecular basis of Dilated and Hypertrophic cardiomyopathies in the Indian population.
  Ph.D. students: Dr.(Mrs.) M. Pari Plavi, Ms.T.R.Reena(JRF), Ms.S.D.Annapurna and Ms.B.Ushasree.

• Co-Investigator: "Centre for Genetic Diagnosis and Counseling for Eye Diseases" - (DBT project)
  Blindness is a major health problem with a substantial genetic component. Over 25 % of eye disorders leading to blindness are genetic in origin. The proposed center aims at developing and establishing correct genetic diagnostic procedures for important inherited eye disorders like congenital cataract, retinitis pigmentosa, retinoblastoma, corneal dystrophies, myopia, glaucoma and retinal degeneration and important ophthalmic syndromes. Chromosomal, metabolic and molecular factors and causes responsible for these eye diseases will be identified and preventive measures will be undertaken in families at risk through genetic counseling

•  Principal Investigator: "Genetic and Molecular Studies in Primary Pulmonary Hypertension" - (UGC project, 2004-2007).PPH is a lung disorder leading to morbidity and premature deaths in children and adults and is characterized by vasoconstriction, thickening or remodeling of vascular arterial wall as a result blood pressure in the pulmonary artery carrying deoxygenated blood from the right ventricle to the lungs is abnormal. Among the different forms of PPH is heritable which accounts for 10-15% of PPH. The proposed project is aimed to identify the prevalence, mode of inheritance and mutation screening for BMPR2 , and ALK1 genes in children and adult groups.

           Ph.D Student :K. Sujana

• Principal Investigator: “Molecular analyses of Arrythmogenic Right Ventricular Dysplasia”-(2004-2007).ARVD is a heart muscle disease, often familial, that is characterized pathologically by atrophy and fibro fatty replacement with right ventricular arrhythmias, leading to sudden death. Nine different types of ARVDs are classified based on different loci involved in the disease indicating the underlying genetic heterogeineity. The present project deals with the mapping of loci associated with ARVD in Indian population and characterizing pathogenic mutations.

          Ph.D Students:Pranathi Rao.P, Maithili.D.V.N(CSIR-JRF).

• · “Immune Responses in Filariasis”- (2005-2008).Lymphatic filariasis is a debilitating disease caused by neumatode worms of the genera wucheraria and bruga. Larval worms circulate in the blood stream of infected persons and adult worms live in lymphatic vessels. Lymphatic filariasis is not life threatening, but it does cause discomfort, swelling of the limbs and genitals, damage to the kidneys and lymphatic system, impairment of body’s ability to fight infection and general malaice. The study focuses on the immune responses in filariasis and to identify the various epidemiological variables associated with the disease condition., to examine the quantitative/titre of antibodies (IgE and IgG) and cytokines (IL-4, IL-5 and IL-10) and to identify the Th responses, to identify the MHC class II responses based on HLA typing of DRB1 locus, to examine the electromorph association of complements C3 C4 and C8 and the role of alleles in immune response, to identify and characterize the circulating toxic antigen/ peptide associated with infection.

          Ph.D Student: Yasmeen.S.(UGC-JRF).

• ·Principal Investigator: “Genetics of Fibroids”- (2005-2008).Uterine leiomyomas or fibroids are the most common gynecological tumors found in women, clinically affecting 25% or more of women of reproductive age. Symptomatic fibroids are associated with the host of problems including menorrhagia, pelvic pressure, pelvic pain, spontaneous abortions and infertility. Although little is known about their etiology, pathophysiology, cytogenetic and epidemiology, evidence suggest a strong heritable component to fibroid development. The study focuses on evaluating patients for progesterone and estrogen levels, to investigate the genes HMGA -2, RAD- 51 family and TGF-β at molecular level and to identify the break points or nature of chromosome abnormality using FISH technique. Mapping of candidate genes pertaining to chromosomes involved in the anomalies.

           Ph.D Student: Lakshmi Rao.K