Proceedings of the International Conference on Ectodermal Dysplasia Classification, Charleston, South Carolina March 9–12th, 2008 (for submission to The American Journal of Medical Genetics).
Article first published online: 13 AUG 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Special Issue: Ankyloblepharon-Ectodermal Defects-Cleft Lip and/or Palate Syndrome and Ectodermal Dysplasias
Volume 149A, Issue 9, pages 2071–2074, September 2009
How to Cite
Slavkin, H. C. (2009), What the future holds for ectodermal dysplasias: Future research and treatment directions. Am. J. Med. Genet., 149A: 2071–2074. doi: 10.1002/ajmg.a.32862
How to cite this article: Slavkin HC. 2009. What the future holds for ectodermal dysplasias: Future research and treatment directions. Am J Med Genet Part A 149A:2071–2074.
- Issue published online: 20 AUG 2009
- Article first published online: 13 AUG 2009
- Manuscript Accepted: 9 MAR 2009
- Manuscript Received: 21 JAN 2009
- ectodermal dysplasias;
- signal transduction pathways;
- single nucleotide polymorphisms (SNPs);
A contrarian view suggests that the ectodermal dysplasias, including more than 200 different disorders, represent clinical variability and molecular heterogeneity as well as complex multigene heritable conditions often characterized by dysmorphogenesis of derivatives of embryonic ectoderm and beyond. Controversy exists over which syndromes do or do not belong in the classification of the clinical features that characterize ectodermal dysplasias. For example, Ellis–van Creveld syndrome is characterized by abnormalities of the teeth and hair, as well as of the skeleton and the cardiovascular system. Precision in diagnosis often is a preamble for improved patient diagnosis, treatment and desired outcomes. In tandem, molecular studies of complex epithelial–mesenchymal interactions required for ectodermal derivatives (e.g., hair, nail, skin, teeth, and exocrine glands) continue to identify and explain many signal transduction pathways and networks related to ectodermal dysplasias. Meanwhile, major international investments in fundamental biomedical research continue to yield significant benefits to the larger society. The convergence of informatics, nanotechnology, genomics, and epigenetic studies with clinical medicine and dentistry promise major progress for special needs patients such as ectodermal dysplasias. For example, investments in the molecular biology of genes and their regulation and function now provide more than 30 candidates for specific biomarkers to improve diagnosis, prognosis, treatments, therapeutics, and biomaterials for ectodermal dysplasias. Innovations in high throughput genotyping, gene mapping, single nucleotide polymorphisms (SNPs), interference RNA treatments, bioimaging, tissue engineering and related biomimetic approaches to design and fabricate biomaterials, offer enormous promise for the future of ectodermal dysplasias. © 2009 Wiley-Liss, Inc.