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ARRA Investments in Oral and Craniofacial Diseases

Cleft Lip and Palate
In America this year about 2,200 babies will be born with cleft palate and about 3,500 with cleft lip.  Cleft lip and palate is the third most common birth defect, affecting 1.1 per 1000 live births (cleft lip alone) and 0.6 per 1000 live births (cleft palate with or without cleft lip). Multiple surgical and medical interventions are often necessary, at an average cost of over $15,000 for cleft lip and over $33,000 for cleft palate.  Health expenditures for children with clefting are approximately eight times higher in the first 10 years of life than for children without birth defects.
  • The connection between folate deficiency and birth defects such as orofacial clefts is well established, but the contribution of genetic variation in either the mother or the embryo to their efficient metabolism of folate – and the resulting impact in frequency of birth defects – is less well understood.  One project will identify genetic variation in this process by sequence analysis of human DNA, and will then determine the functional significance of that variation using a well-established model system (baker’s yeast) for studying the genetics of metabolism.1
  • Another project is supporting the creation of an interdisciplinary team to investigate atypical physical features of cleft lip and cleft palate, including facial movement defects, in family members who do not have clinically defined cleft lip and palate. These subclinical phenotypes in close relatives of cleft patients may indicate an underlying genetic risk, allowing researchers to better understand the etiology of cleft lip and palate and its subforms.2
Bone and Craniofacial Development
Bone growth and development are orchestrated by a complex repertoire of molecular switches, and deregulation of any of the components may lead to debilitating bone disorders such as osteoporosis.
  • One grant is developing a comprehensive atlas of craniofacial development in the zebrafish – a model organism increasingly used for studying how the face and skull develop.  This atlas, freely available to the wider scientific community, will show in 3D how the structures of the face and skull are assembled over the course of embryonic development, revealing opportunities for preventing and treating craniofacial defects.3
  • ARRA funds allow two ongoing projects to establish new collaborations and to extend their studies in a comprehensive genome-wide approach to identify and characterize candidate genes and cellular pathways that are critical for the maintenance of bone cells.4,5
Oral Complications of HIV/AIDS
The HIV/AIDS pandemic results in over 42 million people living with HIV/AIDS worldwide --more than 1 million in the United States alone -- and more than 95% of people develop AIDS-related oral manifestations leading to severe oral diseases.
  • HIV transmission occurs mainly through exposure of mucosal surfaces, such as the intestinal wall, the mouth, nose and throat, and the anal and urogenital tracts. One project is developing a novel oral vaccine vector to induce mucosal immunity against HIV infection.6
  • Oral candidiasis (thrush) is one of the most common oral diseases in persons living with HIV/AIDS, and it is typically considered an early marker for disease progression. Another project is focusing on identifying key elements required for fungal cell uptake of peptides and subsequent adaptive responses, and is likely to lead to the development of alternative peptide-based therapies to treat thrush.7

  1. 1RC1DE020640-01 -- Methyl Donor Pathway Genetics in the Development of Orofacial Clefts -- Rine, Jasper D -- (CA)
  2. 3R01DE016148-05S2 -- Extending the Phenotype of Nonsyndromic Orofacial Clefts -- Marazita, Mary L -- (PA)
  3. 1RC1DE020655-01 -- A Developmental Craniofacial Atlas for the Zebrafish -- Kimmel, Charles B -- (OR)
  4. 3R37DE012528-24S1 -- Synthesis of Osteocalcin in Bone -- Lian, Jane B -- (MA)
  5. 3R01DE011723-12S1 -- MAP KINASE REGULATION OF OSTEOBLAST FUNCTION -- Franceschi, Renny Theodore -- (MI)
  6. 3R01DE019069-02S1 -- Recombinant Lactobacillus as an Oral Mucosal Vaccine Against HIV-1 -- Dean, Gregg A -- (NC)
  7. 3R01DE010641-15A1S1 -- Candidacidal Mechanisms of Salivary Histatins -- Edgerton, Mira -- (NY)

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