Remodeling of Extracellular matrix(ECM) and endothelial dysfunction play a major role in pathogenesis of cerebral aneurysm. Structural integrity of the vessel wall relies on balance between synthesis and degradation of ECM proteins. Endothelial dysfunction is characterized by an imbalance of endothelium derived relaxing and contracting factor. My area of research involves analyzing the variants in genes involved for having association with intracranial aneurysm by case –control study, approach.

I am involved in studying the polymorphisms in neurotransmitter transporter genes in South Indian population. Patients with schizophrenia and control subjects would be analyzed with regard to potential candidate genes. The objective is to study various polymorphic markers including single nucleotide polymorphisms (SNPs) in neurotransmitter transporter genes and to use them as markers for the association study of schizophrenia. In complex disorders, such as schizophrenia, which result from the interaction of various vulnerability genes and non-genetic factors, association studies are the most efficient strategy to explore the putative contribution at candidate gene loci. I plan to investigate the relationship of the polymorphisms of the monoamine transporter genes with therapeutic response in patients with schizophrenia. Identification of specific genes involved in the development of schizophrenia will provide important clues into what goes wrong in the brain to produce and sustain the illness and will guide the development of new and better treatments.

Seven percent of Indians, or around seven crore people suffer from mental disorders in one or the other form. Schizophrenia is a biopsychosocial disorder affecting about 1% of world population. The non Mendelian pattern of familial transmission and the lack of disease specific neuropathological features or biomarkers categorise this disease under complex disorders. Attempts to find risk factors for the disorder using epidemiological methods have shown that schizophrenia is highly heritable and path analyses predict that the disorder is caused by several genes in combination with non genetic factors.
Several genetic association studies have been conducted worldwide to identify the genetic susceptibility to the disease. However no single gene or genetic variant has been established as bonafide schizophrenia susceptibility gene. Recent thinking suggests that the origin of this disease may not lie strictly in DNA sequence variation rather; these may be coupled with epigenetic dysfunctions as the key etiopathogenic factors. Epigenetic modifications like DNA methylation, histone modifications lead to gene silencing or hyper activation, which collectively contribute to the symptoms observed in patients.
Phenotypic diversity based on presentation of symptoms has been observed among schizophrenic patients from different ethno-geographic regions. We aim at dissecting the role of epigenetic modifications, particularly DNA methylation in the etiopathology of schizophrenia in South Indian population. We also try to look into variations at DNA level that influences the epigenetic modifications.

Antipsychotic drugs are the most common form of treatment for Schizophrenia and related mental disorders. The pharmacokinetics and pharmacodynamics of antipsychotic drugs are known to differ among individuals and are influenced by factors like age, gender, ethnicity, genetics and nutritional status.Pharmacoepigenetics potentially offers another level of explanation for interindividual variations in drug response that cannot be accounted for on the basis of genetic polymorphism. The objective of my study is to understand the pharmacoepigenetic aspects of antipsychotic drugs. Identification of epigenetic modifications occurring in genes associated with antipsychotic drug response and side effects will help us to understand the influence of epigenetics in antipsychotic drug response and elucidate the mechanism of antipsychotic drug induced side effects.

Serotonin transporter (SERT) modulates serotonin levels, and is a major therapeutic target in autism. Dr Femina propose to carry out genetic studies of SERT-interacting genes to detect SNP- and haplotype association in the autistic patients and control subjects.