National Foundation for Ectodermal Dysplasias
Scientific Meetings
Ectodermal Dysplasias Classification: A Model for Integrations of Clinical, Systems Biology and Bioinformatics
Summaries of Past Scientific Meetings
International Conference on Ectodermal Dysplasias Classification
Sponsored by the NFED and the Medical University of South Carolina (MUSC) Chairs: Mary Fete, NFED’s Director of Research, and Carlos Salinas, DMD, Professor and Director in the Division of Craniofacial Genetics of the Department of Pediatric Dentistry and Orthodontics of the College of Dental Medicine at MUSC
More than 70 brilliant minds from 23 countries met in March in Charleston, South Carolina for the International Conference on Ectodermal Dysplasias Classification. Their goal was to develop a consensus on a new classification of ectodermal dysplasias to lead to a better diagnostic approach and treatment for affected individuals.
Experts have typically classified ED syndromes in different ways to suit their interests. Clinicians have used a phenotypic classification, concentrating on cardinal signs and symptoms, usually based on the tenet that ED syndromes are genetic disorders affecting two or more ectodermal defects. The problems with this approach involved the scope of cardinal features, overlapping non-ectodermal features, and the issue of isolated dysplasias of ectodermal derivatives.
On a biological level, some experts are interested in genomic classifications (grouping the ED syndromes on the basis of the responsible gene mutations). Others are interested in grouping the ED syndromes on the basis of the structural protein or enzymatic pathway that is affected by the mutations. There are also individuals who are interested in classification for administrative or financial reasons in order to allocate funds for treatment or research, to maximize funding from state or government sources, or to maximize insurance benefits.
The conference speakers addressed all of these topics. They provided thought provoking scientific presentations and engaged in focused discussions. Participants outlined a plan and charged a committee to activate the plan over the course of the next year.
John Opitz, MD was recognized at the conference for his contributions to the field of human and medical genetics in particular for his supportive role in the study of ED. He is the Professor of Pediatrics, Pathology, Human Genetics, and Obstetrics and Gynecology at the University of Utah Health Sciences Center in Salt Lake City.
International Research Symposium on Ankyloblepharon-Ectodermal Defect-Cleft Lip and/or Palate (AEC) Syndrome
In November of 2006, 23 individuals traveled from as far away as New York and Argentina to participate in the International Research Symposium on Ankyloblepaharon-Ectodermal Defect-Cleft Lip and/or Palate (AEC) Syndrome. The workshop was sponsored by the National Foundation for Ectodermal Dysplasias (NFED) and the Department of Dermatology at Texas Children’s Hospital/Baylor College of Medicine. The symposium focused not only on skin erosion but all symptoms manifested in AEC syndrome (also known as Hay-Wells syndrome), which is one of 150 ectodermal dysplasia syndromes.
The event was a follow-up meeting to an NFED Skin Erosion Workshop held at Saint Louis University in 2003. The goal of the 2006symposium was to direct future research into understanding and treating AEC and especially skin erosion. Their findings could literally save the lives of children who are born with severely eroded skin.
The goals of this conference were to develop a uniform and coordinated protocol to the diagnosis of patients with AEC and to establish a coordinated approach to obtain natural history information (with focus on the dermatologic, ophthalmologic, otolaryngologic, gastrointestinal, dental, growth, development, nutrition, audiologic and cognitive manifestations of AEC), treatment outcomes data, and tissue samples to facilitate coordinated basic and translational research.
On Wednesday, November 8th physicians from 11 disciplines evaluated 23 individuals affected by AEC, ranging in age from four months to 30 years. Skin biopsies and blood draws were included in these evaluations. This data will be analyzed in a systematic fashion to better learn how AEC affects individuals.
To date, the researchers have identified the gene mutation in 19 of the 25 people who donated blood.
On Thursday, November 9th, the AEC-affected children participated in a Dermatology Grand Rounds with 60 dermatology professionals from the Houston area and 15 doctors and researchers invited from around the world. In the afternoon, the invited researchers presented their data on molecular genetics, pathology and pathophysiology as it relates to AEC syndrome. Friday, November 10th, concluded the symposium with the researchers in round table discussions discussing what had been learned and identifying future research directions.
