The NFED-sponsored Classification Conference was held on October 18-20 in Charleston, SC. Carlos F. Salinas, D.M.D., F.A.C.D., Conference Chair, reports the goal of this conference was to have scientific experts from all over the world come to an international consensus toward the development of a more inclusive classification model for ectodermal dysplasias.
While Salinas admits that this was challenging because many symptoms of this condition are not simply “black or white,” he remains optimistic.
“I have really high hope that we are going to have an agreement in the near future,” Salinas says.
If they are successful, this new classification model will ideally be made into an interactive online database that J. Timothy Wright, D.D.S., M.S. says will optimize communication between researchers, clinicians, and families dealing with ectodermal dysplasias.
Wright says that if the conference comes out with a “very functional, robust, powerful” grouping of ectodermal dysplasias, then it will have long-reaching implications for future research.
“People will say, ‘Wow, the NFED and the folks dealing with the ectodermal dysplasias really set the groundwork and led the way in this area,” Wright says.
Right now, both Salinas and Wright stress that the current classification system is lacking some key components to fully understanding ectodermal dysplasais at its multiple, complex levels. The current classification is based on the clinical (or physical) appearance of this condition, whereas the new classification method would take a multi-axis approach that would include a gene-based methodology as well.
Having a combination of the genetic and clinical domain will help bring researchers and clinicians more clarity.
While clinicians are more adept at recognizing the physical symptoms, they often might lack a more in-depth knowledge of the disorder at a molecular level. Conversely, researchers might be experts of disorders at a cellular level, but they might have trouble understanding symptoms at a physical level.
Dr. Wright says all three of these domains are important to having a full understanding of ectodermal dysplasias and how to treat it best.
The first axis, clinical, is the physical manifestations of the disorder. For example, the clinical characteristics of a person with hypohidrotic ectodermal dysplasia could be sparse hair, missing teeth, or diminished sweat glands.
The second, gene-based axis revolves around identifying if the gene is known or unknown and how the disorder might have been inherited.
The third axis, functional pathways, is looking into how certain genes interact with other genes. Often, when certain genes intermingle with each other, they cause a trigger-reaction, or cascade.
“[It explains] why you have that gene that causes this protein to be altered in this way and that causes that protein to then not function appropriately in this cascade. That’s why cells do what they do. Or, do what they shouldn’t do. Or, they don’t do what they should do,” says Dr. Wright. “That’s what causes the clinical symptoms.”
Wright thinks that this could draw a fair amount of attention to people that might not have originally been interested in ectodermal dysplasias.
Having these conferences and then publishing the proceedings in different scientific and genetics journals increases the exposure to ectodermal dysplasias by letting people know what the current science is, and what actions are being taken.
“Once those papers come out in journals, there is a lot of exposure and a broad readership, and not only that, but they’re available to everyone in the world,” Wright said. “That’s a huge benefit to having the conference.”
Salinas adds that this kind of attention could also help raise funds for more innovative research on the subject as well.
“When you bring this to the attention of the researchers, researchers are going to be pushing for funding support … in order to advance in their research,” Salinas explained.
Because the database is only in the planning stages, Wright says that funds will also be crucial to get the database up and running. To do this, they not only need researchers who understand the condition and all of its variations, but also people who are” tech-savvy” and know their way around the complicated software needed to complete this project.
Mary Fete, R.N., M.S.N., the NFED’s Sr. Director of Programs reports that she was thrilled with the Conference.
“It was amazing to see experts from around the world come together and arrive at a consensus on how to classify the ectodermal dysplasias. They made major strides that will change how we all look at the conditions.”
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.
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.