National Foundation for Ectodermal Dysplasias

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Ectodermal Dysplasias Awareness Month

Ectodermal Dysplasias Awareness Month is held in February and is dedicated to spreading awareness of the 150+ rare genetic disorders known as ectodermal dysplasias. The disorders affect about 1 in 10,000 births. The National Foundation for Ectodermal Dysplasias sponsors this month to support and empower the ectodermal dysplasias community and to foster greater public sensitivity through education.

What can you do to support Ectodermal Dysplasias Awareness Month?

Whether you have ectodermal dysplasias, or just know someone who does, you are a perfect candidate to get in the fight. Here are some ideas of things you can do:

Make a tax free donation to the National Foundation for Ectodermal Dysplasias to support the work we are doing for the ectodermal dysplasia community. Donate now.

Educate others about what the ectodermal dysplasias are. Share information about ectodermal dysplasias on your blog, your Web site, Facebook profie. Download Fact Sheets.

Send an email to your friends telling them about your personal experience with ectodermal dysplasia and Awareness Month. Ask them to spread the message AND to donate to the NFED on our Web site.

Plan a fundraiser to benefit the NFED. Our free resource tool which will take you step by step in planning a fundraiser. Download You Can Do It, Too: A Guide to Raising Awareness and Funds for the Ectodermal Dysplasias.

Post an informational flyer on the bulletin board at your school, church, workplace, or business. Download Awareness Flyer.

Purchase NFED items. Wear your NFED t-shirt. Give out wristbands. Send notes on NFED note cards. Donate a copy of Lionel Learns What Matters Most to your school or library.

Hand out NFED brochures. We have a brand new brochure which describes the ectodermal dysplasias and how the NFED helps the individuals it affects. You can order them online.

There is always work to do but the laborers are few. This month, consider taking an action that will help you and the entire NFED family.

Join the fun as we educate others about ectodermal dysplasia and celebrate the amazing NFED family!

Join Us In Beautiful Colorado Springs, Colorado
For The 2010 National Family Conference!

National Family Conference scheduled for July 22-24, 2010

The NFED is headed to Colorado Springs, Colorado!
Start saving your pennies and put July 22-24, 2010 on your calendar.

If you attend this Family Conference, you will benefit from:

* Stimulating discussions, medical, dental and research updates.
* Sharing personal connections with other who understand.
* Meeting others to exchange ideas, support and advice.
* Gaining knowledge of helpful products and resources.
* Participating in research to advance our understanding of the ectodermal dysplasias.

Kids’ Camp

Special programs for the affected children and their siblings are an integral part of the conference. Each day, the children enjoy activities, entertainment, and refreshments.

Conference Location

The conference will be held at the Cheyenne Mountain Resort (www.cheyennemountain.com/). The Cheyenne Mountain Resort is only 15 minutes from the Colorado Springs Airport and 70 minutes from Denver. The Resort’s on-site recreational facilities include an18- hole Pete Dye championship golf course, 18 tennis courts (six indoor), three heated swimming pools (one indoor), two Jacuzzis, squash and racquetball courts, and a fully equipped fitness center, massage and spa facilities, and mountain bike rentals. Water sports on the 35-acre recreational lake include sailing, paddleboats and fishing.

Conference Cost

The Registration fee includes your sleeping accommodations (and all taxes, services charges and the facility fee) for Thursday, July 22nd and Friday, July 23rd, dinner on Thursday evening, breakfast, lunch and dinner on Friday and breakfast and lunch on Saturday, all conference materials, clinical consults, workshops, general sessions and all Kids’ Camp activities.

Single Occupancy Adult	$550
Double Occupancy Adult (includes 2 adults)	$760
Additional Child (age 4 and under)	FREE
Additional Child (age 5-12)	$70
Additional Adult (age 13 and up)	$150

Room reservations for before or after July 22-23 are $184 per night for single or double rooms. Make plans to join us and explore all that Colorado Springs has to offer.

The Ohio State University and Dental Specialists of Virginia
Added as Dental Treatment Centers

The NFED is pleased to announce that The Ohio State University College of Dentistry (OSU) and the Dental Specialists of Virginia are our most recently added Dental Treatment Centers. They join seven other treatment centers in the United States.

According to Dr. Lisa Knobloch, the Director of Treatment Center at OSU, they welcome the opportunity to serve children and young adults who are born with congenitally missing teeth.

“These patients present challenges that begin at a very young age and require multidisciplinary therapy involving prosthodontics, orthodontics, and surgical treatment often involving orthognathic surgery and dental implants,” Knobloch said. “At the College of Dentistry, patients will receive a comprehensive approach to treatment where the various disciplines are all located within the college. All stages of care from the planning of treatment through the various phases and final prostheses placement can be implemented within the college. We hope to serve patients not only from Ohio but the neighboring states that do not offer treatment centers such as Michigan, Indiana, Kentucky, West Virginia and western Pennsylvania.”
The Dental Specialists of Virginia are a network of private practice dental specialists committed to providing outstanding comprehensive treatment to patients with craniofacial anomalies and systemic diseases affecting their oral and facial structures. They are located in Richmond, Virginia and Karen S. McAndrew, D.M.D, M.S. will lead the program.

“Our strength lies in our communication and as Dental Specialists of Virginia we serve as a model for private-practice-based team-managed dental care throughout the country,” Dr. McAndrew said. “By pioneering the use of a single multidisciplinary record transmitted digitally among offices we can eliminate redundant appointments and streamline communication among private practitioners. We hold our treatment standards to the highest level and our providers are dedicated to using science and evidence-based research as a foundation for clinical care.”

To access the Dental Treatment Centers, you MUST first go through NFED’s application process. Do NOT contact the university or private practice directly. To apply for the Dental Treatment Center Program, you can download the forms on the NFED Web site or contact Mary Fete at the NFED office.
It is the patient's responsibility to make an informed decision as to the appropriateness of care and to make suitable arrangements for payment of associated fees. Fees vary according to the location. All travel, lodging and meal expenses associated with treatment are the patient's responsibility.

Participating Dental Treatment Centers

Dental Specialists of Virginia
Saint Louis University Center for Advanced Dental Education
Southern Illinois University School of Dental Medicine
The Ohio State University College of Dentistry
The University of North Carolina at Chapel Hill
University of Alabama at Birmingham
University of Iowa
University of Missouri Kansas City
University of Pennsylvania

2010 Family Conference Scholarship Application Now Available

Click here download the 2010 Family Conference Scholarship Application!

*To view the Scholarship Application you will need a pdf viewer such as Adobe's Free Reader.

Replacement Therapy Gives Hope for Successful Treatment of HED Symptoms

New Company to Advance HED Research

Three hundred people at the National Family Conference in Virginia on July 23rd cheered and cried as Neil Kirby, CEO of Edimer Pharmaceuticals, shared groundbreaking news about x-linked hypohidrotic ectodermal dysplasia (XLHED) research.

On July 1, Third Rock Ventures, a capital venture firm in Boston launched a new company called Edimer Pharmaceuticals, which will move ahead with the development of a recombinant protein (EDI200; formerly called APO200) as a potential therapy for XLHED.

“Mr. Kirby’s announcement amidst all of those families will forever be one of the highlights of NFED’s history and my memories,” NFED Executive Director Mary K. Richter said. “The emotional and overwhelming response from all of the families, not just those affected by HED, was incredible.”

The news was a major breakthrough as the research had been stalled since the summer of 2007 when the company which owned APO200 was bought by TopoTarget. The new owner was not interested in APO200 as it didn’t fit their company’s mission. Christophe Maier and Stephane Demotz from Apoxis believed in the research so much that they formed Edimer Biotech SA in 2008 and began searching for funding to continue the research. Their search ended successfully with Third Rock Ventures’ interest in rare disorders and specifically, XLHED.

EDI200 was initially designed at the University of Lausanne, Switzerland by Olivier Gaide and Pascal Schnieder. They discovered that a missing protein in the EDAR gene is what causes the symptoms of XLHED. The duo developed a recombinant protein which was successfully tested in two animal models with HED as a replacement therapy where the naturally produced molecule was missing. By injecting the missing protein back, the mice and dogs developed normal teeth, sweat glands and hair. At this point, the research stalled until the formation of Edimer Pharmaceuticals in July.

According to Mr. Kirby, Edimer Pharmaceuticals is moving the focus of the research from Switzerland to the United States. They will continue to work with Maier and Demotz as well as the researchers involved with the mouse and canine models, Drs. Schnieder, Gaide and Magi Casal. Initially, their focus will be treating infant males affected by HED.

First, much work must happen. Kirby cautions that the road to bring the protein treatment to clinical trials in humans will be a long one. They will need the help of all NFED families in giving natural histories and enrolling in the patient registry.

The NFED plans to launch the patient registry in January, 2010. The vision is to establish an International registry that will ultimately serve as a repository of information gathered about individuals and families affected by ectodermal dysplasias, both the more common and the rarer disorders. The goal of the patient registry is to facilitate communication and the dissemination of information between affected individuals, clinicians involved in their treatment and scientists who strive to advance the research directed at improving the lives of people affected with ectodermal dysplasias.

We need all individuals affected by HED to participate. It may be a time consuming – but very important – process. In January, we will host a one-hour Topical Conference Call to explain the Patient Registry and answer any questions.

Edimer’s goal is to begin clinical trials in 2011. Treatment would mean giving infant males affected by XLHED a one-time injection of the protein shortly after birth. Eventually, the project will include female carriers of XLHED. While there were no negative side effects of the therapy in the mice and dogs, the side effects in humans are still unknown.

“It is incredibly exciting to think that the HED gene was only discovered 13 years ago in 1996 and we are already talking about a treatment that could eradicate the effects of the condition,” Richter said. “I am excited that future generations of NFED families may have this treatment option and proud that NFED has helped make it possible.”

The NFED will publish a more in-depth series of articles on EDI200, what it is, its history, how it can help patients and more in Connecting Lives, our research progress report to be published in January, 2010.

H1N1 Virus and Ectodermal Dysplasias

An issue of great concern is the potential impact of the H1N1 virus. Because this is a relatively new phenomenon, there is little that is certain other than the fact that younger folk rather than older individuals whose health is compromised in some way and pregnant women may be at greatest risk for experiencing serious effects. The United States Centers for Disease Control suggest that anyone in this group get a flu shot as soon as possible and the H1N1 vaccine as soon as it is available. It may also be useful to receive the pneumonia vaccine if you are in a group for whom the protection is advised. Every precaution from using hand sanitizer to frequent and thorough hand washing should be taken. If you become infected, please stay home so as to not infect others. Make certain, should you need to sneeze that you cover your mouth with a Kleenex or even your elbow to keep germs contained. Keep surfaces, like telephone handsets, that others may use as clean as possible. Remember that those who are infected can infect others until they have gone at least 24 hours fever free.

Individuals affected by ectodermal dysplasias may be at risk for complications related to any viral infection. The inability to sweat may contribute to high fevers with the H1N1 virus (Swine flu). The difference in the composition of secretions (thick, tenacious) may interfere with the ability of the body to clear the virus and the increase in secretions caused by the infection. Some individuals affected by ectodermal dysplasias have impaired immune systems, which can make them more likely to acquire the flu and more likely to develop complications such as pneumonia. Although ectodermal dysplasias are not listed specifically as high-risk conditions related to influenza infection, this list is not comprehensive—it speaks of general types of conditions which are or could be at risk of more serious complications. The list is not meant to be a comprehensive list of high-risk disorders. Conditions that are considered to be at significantly increased risk for complications of influenza would require more aggressive prevention and treatment measures, including early immunization against H1N1 AT ANY AGE, treatment with antiviral medications at the first sign of infection, as well as taking preventive medication after known exposure to H1N1 or seasonal influenza. It is important that individuals affected by ectodermal dysplasia discuss this issue with their primary care physician, as many experts would agree that these conditions would qualify as high-risk.