title: Facing up to the challenges of advancing Craniofacial Research.
abstract: Craniofacial anomalies are among the most common human birth defects and have considerable functional, aesthetic, and social consequences. The early developmental origin as well as the anatomical complexity of the head and face render these tissues prone to genetic and environmental insult. The establishment of craniofacial clinics offering comprehensive care for craniofacial patients at a single site together with international research networks focused on the origins and treatment of craniofacial disorders has led to tremendous advances in our understanding of the etiology and pathogenesis of congenital craniofacial anomalies. However, the genetic, environmental, and developmental sources of many craniofacial disorders remain unknown. To overcome this problem and further advance craniofacial research, we must recognize current challenges in the field and establish priority areas for study. We still need (i) a deeper understanding of variation during normal development and within the context of any disorder, (ii) improved genotyping and phenotyping and understanding of the impact of epigenetics, (iii) continued development of animal models and functional analyses of genes and variants, and (iv) integration of patient derived cells and tissues together with 3D printing and quantitative assessment of surgical outcomes for improved practice. Only with fundamental advances in each of these areas will we be able to meet the challenge of translating potential therapeutic and preventative approaches into clinical solutions and reduce the financial and emotional burden of craniofacial anomalies.
authors.affiliation: Stowers Institute for Medical Research, Kansas City, Missouri.|Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, Kansas.
authors.forename: Paul A
authors.initials: PA
authors.lastname: Trainor
authors.affiliation: Department of Anthropology, Pennsylvania State University, University Park, Pennsylvania.|Center for Functional Anatomy and Evolution, Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors.forename: Joan T
authors.initials: JT
authors.lastname: Richtsmeier
mesh_terms: D019465:Craniofacial Abnormalities / Q000196:embryology* / Q000235:genetics* / Q000601:surgery; D044127:Epigenesis, Genetic / Q000502:physiology*; D060005:Genotyping Techniques / Q000379:methods*; D006801:Humans; D066330:Printing, Three-Dimensional; D012106:Research / Q000639:trends*; D057170:Translational Research, Biomedical / Q000379:methods / Q000639:trends*
keywords: craniofacial anomaly; development; genetics
references.citation: Clin Orthop Relat Res. 2013 Nov;471(11):3426-36
references.pmid: 24072624
references.citation: J Craniofac Surg. 2012 Mar;23(2):530-6
references.pmid: 22421853
references.citation: Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):213-7
references.pmid: 24142870
references.citation: Development. 2014 Mar;141(5):1059-63
references.pmid: 24550113
references.citation: Development. 2010 Oct;137(20):3405-9
references.pmid: 20826528
references.citation: J Craniofac Genet Dev Biol Suppl. 1985;1:25-30
references.pmid: 3902947
references.citation: Eur J Paediatr Neurol. 2013 May;17(3):221-4
references.pmid: 23062756
references.citation: Hum Mol Genet. 1999;8(10):1853-9
references.pmid: 10469837
references.citation: Curr Genet Med Rep. 2014 Sep 1;2(3):135-145
references.pmid: 26146596
references.citation: Eur J Hum Genet. 2011 Apr;19(4):369-76
references.pmid: 21248745
references.citation: Nat Genet. 2012 Dec;44(12):1360-4
references.pmid: 23160099
references.citation: Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):283-94
references.pmid: 24123981
references.citation: Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):259-70
references.pmid: 24127277
references.citation: Wiley Interdiscip Rev Dev Biol. 2015 Jan-Feb;4(1):17-32
references.pmid: 25339593
references.citation: Genome Res. 2013 Jul;23(7):1051-3
references.pmid: 23817045
references.citation: Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):250-9
references.pmid: 24578066