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Astanand (Anil) Jugessur

Cand.Mag., Cand.Scient., Dr.Scient. (Norway)

Anil Jugessur

SPECIAL INTERESTS

Dr. Jugessur's research focuses on finding the causes of orofacial clefts and other birth defects using genetic and epidemiological techniques. His area of expertise ranges from identifying the best set of genetic markers for large-scale genetic analysis of complex traits to devising the best analytic strategy to incorporate environmental exposures in analyses of gene-environment interactions.

EDUCATION

1991-1992

MIU College of Business Administration, Oslo, Norway
1992-1995 Candidatus Magisterii Degree, University of Bergen, Norway
1996-1998 Candidatus Scientiarum Degree, University of Bergen, Norway
1999-2003 Doctor Scientiarum Degree, University of Bergen, Norway
2003-2005 Visiting Scientist, Dept. of Pediatrics, University of Iowa, USA
2005-Apr 2007 Postdoctoral Fellow, Dept. of Public Health and Primary Health Care, University of Bergen, Norway 
May 2007-Dec 2007     Associate Professor, Dept. of Public Health and Primary Health Care, University of Bergen, Norway 
Jan 2008-Aug 2009 Postdoctoral Fellow, MD Theme, Murdoch Childrens Research Institute (MCRI), Royal Children's Hospital (RCH), Australia
Sept 2009-Nov 2009

Senior Research Officer, Capacity Building Grant in Population Health, MCRI, RCH, Australia
Nov 2009-Dec 2010

Honorary Research Fellow, MD Theme, MCRI, RCH, Australia

HOSPITAL APPOINTMENTS

2009-2010

Honorary Senior Research Fellow, Dept. of Plastic and Maxillofacial Surgery, RCH, Australia

SOCIETIES

ASHG

The American Society of Human Genetics
SCG Society of Craniofacial Genetics
ACPA

The American Cleft Palate-Craniofacial Association

RESEARCH PROJECTS

A. A prospective multicentre study to identify genetic and environmental factors influencing the risk of orofacial clefts
Every two and a half minutes, somewhere in the world, a child is born with a cleft. At the Royal Children's Hospital in Melbourne, orofacial clefting is the single most commonly treated craniofacial malformation. Not only is clefting very common, it has been associated with a higher risk of cancer in later life and increased overall mortality well into adulthood. Although surgery can correct most of the structural defects, patients still face a lifetime of functional, social, and aesthetic challenges. Furthermore, the extensive multidisciplinary treatment often required to treat this birth defect causes significant disruptions in the lives of these children and families. Patients experience feeding difficulties in infancy; speech, hearing and dental problems when they grow older, and potentially life-long social and psychological sequelae as a result of the facial deformity itself. Despite the gravity of the problem, insufficient resources have been targeted to discover the underlying aetiology of isolated clefts.

The aim of this project is to explain the complex pathogenesis of isolated clefts by identifying specific genetic and environmental factors that underlie these defects. Genetic subgroups of the population may have enhanced vulnerability to the teratogenic effects of particular environmental agents. Whether through variant growth patterns or through variant metabolic pathways, genetically susceptible subgroups offer a rich opportunity for research. They may provide a more sensitive means of identifying substances that are teratogenic in humans and lead to a better understanding of the mechanisms by which clefts occur. New insights into the developmental biology of the face will help nurture the translation of scientific findings into practical clinical care. A clear identification of genetic and environmental susceptibility will allow the generation of plausible new biological mechanisms for cleft causation. Novel and confirmed associations will justify more detailed study of the mechanisms through which the genes confer risk. 

Hypotheses to be tested include:
1. Risk-related alleles might operate either directly through expression of the fetal genome, or indirectly through a maternally-mediated genetic effect on the uterine environment. We use an offspring-parent triad study design to delineate these distinct contributions and estimate effects from these two genomic sources.

2. Risk-related alleles that confer more sensitivity to a particular exposure will have a clearer effect among the exposed compared with the unexposed case-parent triads. Thus, specific gene-environment interactions may exist in defined strata of exposed versus unexposed case-parent triads.

B. Identifying genes responsible for isolated clefts of the lip and palate by a subphenotyping approach.
A major aim of this project is to contribute further to our understanding of the causes of clefts. A quantitative assessment of craniofacial morphology, subepithelial OO defects, teeth anomalies, and speech will enable unaffected relatives of cleft individuals to be assigned into more appropriate risk categories for improved recurrence risk estimations and overall cleft management. Identification and subsequent inclusion of superficially 'unaffected' but genetically informative individuals into genetic analyses should lead to significant progress in association analyses and gene-mapping efforts.

Grant Funding: National Health & Medical Research Council (NHMRC), Project ID 607396: "A subphenotyping approach to identifying genes responsible for isolated clefts of the lip and palate." Duration: 2010-2012.

PUBLICATIONS

From 2008-present

  1. Wee L, Vefring H, Jonsson G, Jugessur A, et al. Rapid genotyping by the LightCycler™ instrument and identification of unexpected nucleotide substitutions within the selected probe area: Application to human renin (REN) gene. Submitted to Clinical Chemistry 21 Oct 2009.
  2. Jugessur A, Shi M, Gjessing HK, et al. Fetal Genetic Risk Factors for Isolated Cleft Lip Only. Poster presented at the American Society of Human Genetics in Honolulu, Hawaii, USA, 20-24th October 2009.
  3. Kimani JW, Yoshiura K, Shi M, Jugessur A, Moretti-Ferreira D, Christensen K, Murray JC. Search for Genomic Alterations in Monozygotic Twins Discordant for Cleft Lip and/or Palate. Twin Res Hum Genet. 2009 Oct;12(5):462-8.
  4. Jugessur A. Effects of Fetal & Maternal Genes on the Risk of Isolated Orofacial Clefts. Invited Speaker at the 10th International Congress on Cleft Lip and Palate and Related Craniofacial Anomalies, Fortaleza, Brazil, 10-13 September 2009.
  5. AL Boyles, LA DeRoo, AJ Wilcox, JA Taylor, A Jugessur, K Christensen, JC Murray and RT Lie. Maternal alcohol consumption and infant clefts: the role of alcohol metabolism gene variants. Am J Epidemiol. 2009; 169; Suppl.11 (Meeting abstract).
  6. Lina M. Moreno, Maria Adela Mansilla, Steve A. Bullard, Margaret E Cooper, Tamara D. Busch, Consuelo Valencia-Ramirez, Dora Rivera Anne Hing, Junichiro Machida, Katherine Krahn, Sandy Daack-Hirsch, Peter Chines, Edward J. Lammer, Marilyn Jones, Kaare Christensen, Rolv T. Lie, Marla. K. Johnson, Elizabeth Pugh, Kim Doheny, Astanand Jugessur, Allen J. Wilcox, Mauricio Arcos-Burgos, Mary L. Marazita, Jeffrey C. Murray, Andrew C. Lidral. FOXE1 Association with Isolated Cleft lip with or without Cleft Palate and Isolated Cleft Palate. Hum Mol Genet. 2009 Sep 24. [Epub ahead of print].
  7. Jugessur A, Farlie PG, and Kilpatrick N (2009). The Genetics of Isolated Orofacial Clefts: From Genotypes to Subphenotypes. Oral Dis. 2009 Oct;15(7):437-53.
  8. Marazita ML, Lidral AC, Murray JC, et al. 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. Hum Hered. 2009;68(3):151-70.
  9. Jugessur A, Shi M, Gjessing HK, et al. Genetic determinants of facial clefting: analysis of 357 candidate genes using two national cleft studies from Scandinavia. PLoS One. 2009;4(4):e5385.
  10. Suzuki S, Marazita ML, Cooper ME, et al. Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. Am J Hum Genet. 2009;84(3):406-11.
  11. Shi M, Mostowska A, Jugessur A, et al. Identification of microdeletions in candidate genes for cleft lip and/or palate. Birth Defects Res A Clin Mol Teratol. 2009;85(1):42-51.
  12. Boyles AL, Wilcox AJ, Taylor JA, et al. Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study. Genet Epidemiol. 2009;33(3):247-55.
  13. Rahimov F, Marazita ML, Visel A, et al. Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nat Genet. 2008;40(11):1341-7.
  14. Jugessur A, Rahimov F, Lie RT, et al. Genetic variants in IRF6 and the risk of facial clefts: single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway. Genet Epidemiol. 2008;32(5):413-24.

 

Last Updated 16-Nov-2009. Authorised by: Heather Cleland. Enquiries: Amber Fraser.
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