The role of nectins in morphogenesis of the primary palate: implications for non-syndromic cleft lip and palate.

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/349496

Funding Status
Closed

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Funded Activity Summary

Cleft lip with or without cleft palate may be an isolated feature or part of a wider array of abnormalities, ie. syndrome. Collectively, cleft lip and palate is the fourth most common congenital disorder in humans, occurring with a frequency of between 1 in 600 and 1 in 1000 live births worldwide. This high frequency is reflective of the heightened susceptibility of the developing face to genetic and-or environmental perturbation and likely arises as a direct consequence of the rapid and significant morphological changes that ultimately generate the human face. Yet despite the clinical significance of this abnormality and the psychological and financial burden to the patient and their family, there is relatively little known about the genetic and, in particular, cellular mechanisms responsible. We are seeking to understand the cellular and developmental role(s) of two key proteins in the formation of the upper lip and palate. It is anticipated that these studies will provide valuable new clues as to the molecular events that underlie some forms of cleft lip and palate as well as reveal a likely mechanism to explain some of the marked clinical variability that is seen most prominently in the isolated forms of cleft lip and palate. It is envisaged that these data may ultimately lead to the development of more effective diagnostic and preventative measures.

Funded Activity Details

Start Date: 01-01-2005

End Date: 01-01-2007

Funding Scheme: NHMRC Project Grants

Funding Amount: $439,500.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Developmental Genetics (incl. Sex Determination)

ANZSRC Socio-Economic Objective (SEO)

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Other Keywords

animal model | cell adhesion | cleft lip | cleft lip and palate | craniofacial malformations | disease mechanisms | genetic disease | genetic disorders | genetic predisposition | molecular basis of disease

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