P.hd in Molecular EndocrinologyNational Institute for Research in Reproductive Health
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P.hd in Molecular Endocrinology
The department focuses on research related to reproductive endocrine disorders leading to infertility. Biochemical, molecular, genetic and bioinformatics approaches are being employed to unravel the pathophysiology of polycystic ovary syndrome (PCOS) and congenital adrenal hyperplasia (CAH). Extensive studies are being carried out in the area of PCOS to understand its etiology and genetic basis. Hyperandrogenicity and hyperinsulinemia are common features of PCOS. Using a PCOS micro array gene set an in silico analysis was recently carried out to identify the Transcription Factor Binding Sites (TFBS) that are overexpressed in this condition. The work resulted in identification of 4 TFBS that are significantly over expressed in PCOS. The novel finding has been published in Gene, 2008. Molecular genetic analysis of androgen regulating genes also led us to the polymorphisms in promoters of CYP11A1 ( >=6 pentanucleotide repeats) and CYP17 (T>C polymorphism) that are predisposing factors for hyperandrogenicity in PCOS (Fertility and Sterility, In Press).Our research has established association of dyslipidemia, insulin resistance, Type 2 diabetes mellitus and cardiovascular disease with PCOS. Our recent study with insulin signaling pathway genes also reveals an association of a C/T polymorphism at His 1058 of insulin receptor gene with PCOS in the lean rather than obese women ( European Journal of Endocrinology, 2009). An animal model of PCOS has been developed to understand the cellular and molecular basis of cyst formation in ovaries.
Using state-of-art tools, comprehensive genetic screening is being carried out of candidate genes associated with different conditions of male and female infertility. Novel gene variants have been identified and frequencies of known variants have been established in our study population.
Department is striving towards development of molecular diagnostic tools for some of the treatable genetic disorders. Rapid molecular techniques for early prenatal diagnosis of CAH are now being validated.
The department is also pursuing research in the area of maternal and child health. Safety of breast-fed infants of mothers on long term hormonal contraceptives and anti-tubercular drugs is being assessed.