Manika Govil, PhD
Bridgeside Point Building
100 Technology Drive, Suite 500
Pittsburgh, PA 15219
Research Assistant Professor
Department of Oral Biology
Complex craniofacial and dental genetic disorders: Oral-facial clefts and oral health status: Craniofacial and dental genetic disorders are complex traits. Congenital anomalies such as cleft lip and or palate (CL/P) have a multifactorial etiology and a known variation in prevalence by ethnicity. Oral health status of individuals is influenced by genetic, environmental, and behavioral factors which in turn result in oral health disparities observed among individuals and even populations. A study to characterize genetic factors contributing to observed oral health status of individuals, or one attempting to localize all genes of measurable effect underlying cleft lip and or palate, will necessarily require innovative and complex methods of analysis designed to exploit all available phenotypic information, while also accounting for observed heterogeneity among populations. Such methods would in turn require sophisticated computational techniques for their implementation and use. This project focuses on
- Gaining fundamental knowledge of craniofacial and dental genetic anomalies, with special emphasis on understanding the etiology, epidemiology and phenotypes of these disorders;
- Continued development and testing of computationally feasible statistical genetic methods for analysis of these complex craniofacial and dental genetic disorders; and
- Application of these methods to allow genetic mapping of complex genetic traits like CL/P and oral health.
Craniofacial microsomia (CFM): CFM involves the asymmetric underdevelopment of facial skeletal bones and soft tissue and occurs in over 1 in 3500 births. Typically affecting the jaw and ear, CFM impairs basic functions such as hearing, speech, respiration, and chewing, in addition to its aesthetic effects. It can be life-threatening due to airway compromise. This project proposes to recruit a cohort of case trios and controls to study the CFM phenotype and its underlying genetics.
Tricho-dento-osseous syndrome (TDO): TDO is a rare syndrome caused by mutations in the DLX3 homeobox gene, is characterized by enamel hypoplasia, taurodontism, curly hair, and increased bone density. In this project, we are studying these variably expressed phenotypic features in a sample of families from North Carolina, Virginia, and Tennessee segregating for the TDO trait to further characterize their possible interrelationships and to identify potential modifying genes that are explanatory of phenotypic variation in these different traits.
Osteoarthritic pain: The aim of this project is to study the relationship between candidate gene variants and pain and the extent to which candidate genes may influence the effectiveness of transcutaneous electrical nerve stimulation as a pain management strategy.
Facial movement and vocal intensity in schizophrenia: It is hypothesized that individuals with schizophrenia have less coordinated nonverbal signaling than healthy controls. This project studies eyebrow movement and vocal intensity (dB) to explore differences in coordination of these nonverbal signals for individuals with schizophrenia and their first degree relatives.
Swartz MD, Thomas DC, Daw EW, Albers K, Charlesworth JC, Dyer TC, Fridley BL, Govil M, Kraft P, Kwon S, Logue MW, Oh C, Pique-Regi R, Saba L, Schumacher FR, Uh HW. Model selection and Bayesian methods in statistical genetics: summary of group 11 contributions to Genetic Analysis Workshop 15. Genetic Epidemiology, 31 (Suppl 1):S96-102, 2007.
Govil M, Segre AM, Vieland VJ. MLIP: Using multiple processors to compute the Posterior Probability of Linkage. BMC Bioinformatics 9(Suppl 6):S2, 2008.
Govil M, Vieland VJ. Practical Considerations for Dividing Data into Subsets Prior to PPL Analysis. Human Heredity, 66(4):223-237, 2008.
Rahimov F, Marazita ML, Visel A, Cooper ME, Hitchler MJ, Rubini M, Domann FE, Govil M, Christensen K, Bille C, Melbye M, Jugessur A, Lie RT, Wilcox AJ, Fitzpatrick DR, Green ED, Mossey PA, Little J, Steegers-Theunissen RP, Pennacchio LA, Schutte BC, Murray JC. Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nature Genetics, 40(11):1341-7, 2008.
Choi SJ, Marazita ML, Hart PS, Sulima PP, Field LL, McHenry TG, Govil M, Cooper ME, Letra A, Menezes R, Narayanan S, Mansilla MA, Granjeiro JM, Vieira AR, Lidral AC, Murray JC, Hart TC. The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P. European Journal of Human Genetics, 17(6):774-84, 2009.
Marazita ML, Lidral AC, Murray JC, Field LL, Maher BS, McHenry TG, Cooper ME, Govil M, Daack-Hirsch S, Riley B, Jugessur A, Felix T, Moreno L, Mansilla MA, Vieira AR, Doheny K, Pugh E, Valencia-Ramirez C, Arcos-Burgos M. Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype specific differences in linkage and association results. Human Heredity, 68(3):151-70, 2009.
De Carvalho FM, Tinoco EM, Govil M, Marazita ML, Vieira AR. Aggressive periodontitis is likely influenced by a few small effect genes. Journal of Clinical Periodontology, 36(6):468-73, 2009.