National Foundation for Ectodermal Dysplasias

Our mission is to empower and connect people touched by
ectodermal dysplasias through education, support, and research.

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AEC/EEC Research

Taking AEC and EEC Research to the Next Level

By Maranke Koster, Ph.D.

(NFED's Note: AEC is ankyloblepharon-ectodermal dysplasia-clefting syndrome, which was formerly known as Hay Wells syndrome or Rapp Hodgkin syndrome.  EEC stands for ectrodactyly-ectodermal dysplasia-clefting syndrome.)

Overview of Our Research

AEC and EEC are ectodermal dysplasias caused by mutations in the p63 gene.  Although only AEC has historically been linked to the presence of skin erosions, data from the NFED’s Ectodermal Dysplasias International Registry indicate that over 25% of EEC patients exhibited skin erosions at some point during their lives. 

Our overall goal is to develop a strategy for the treatment of skin erosions in AEC and EEC patients by generating healthy replacement skin that will not be immunologically rejected by the patients.  To accomplish this goal, we are developing a strategy that utilizes the patients’ own skin cells. 

These cells will be temporarily transformed into immortal stem cells, termed induced pluripotent stem cells (iPSC).  After correcting the patients’ p63 mutation using modern gene correction tools, the iPSC will be directed to develop into healthy skin cells.  These cells are then used to generate full-thickness replacement skin for transplantation. 

Since these cells originate from the patient receiving the transplant, immunological rejection of the skin grafts is unlikely.  Although it will take some time to make this treatment option a reality, we have already made significant progress.  This progress would have not been possible without the support of the NFED and willingness of its members to support our research by providing skin biopsies.

In addition, we plan to use the iPSC-derived skin cells (either with or without p63 mutation) to answer mechanistic questions about p63.  Examples of questions we aim to answer are:  Why do certain mutations in p63 cause AEC whereas others cause EEC?  Why do some EEC mutations cause skin erosions and others do not? 

Are skin erosions in AEC patients similar to those that occur in a subset of EEC patients?   A better and more precise understanding of the role of mutant p63 proteins in both AEC and EEC may lead to the development of therapeutic options that are less invasive than the proposed cell therapy. 

Experiments addressing both research objectives are performed simultaneously thereby increasing the possibility for developing novel therapies for skin erosions in AEC and EEC patients.  Further, very similar approaches can be used to develop therapies for corneal lesions.

 

Upcoming Research Opportunities

Sign Up to Participate

Pending regulatory approval, we plan to obtain skin biopsies from patients affected by AEC or EEC (with or without a history of skin erosions) for our research studies on Wednesday, July 22nd (one day prior to the start of the NFED Family Conference) at the University of Colorado Hospital in Aurora, Colo.  The University of Colorado campus is conveniently located about 15 minutes from Denver International Airport (DIA). 

The overall objective of our research is to develop new treatment strategies for skin abnormalities that occur in patients with p63-related ectodermal dysplasias, such as AEC and EEC.  We also want to better understand the differences and similarities between AEC and EEC.

If you decide to participate in this research, you would need to provide a small skin biopsy (4mm).  This skin biopsy will be obtained by a (pediatric) dermatologist.  Your skin biopsy will then be directly taken to the research laboratories of Drs. Koster and Koch located on the same campus as the hospital.

For more information on participating in this research, please email NFED Executive Director Mary Fete. 

 

Tour the Facilities

Always wanted to see state-of-the-art ectodermal dysplasia research facilities?  Please join us for a tour of the ectodermal dysplasias research laboratories, Wednesday, July 22nd at the University of Colorado Anschutz Medical Campus.  You will have the opportunity to view live stem cells and skin cells through the microscope as well as different types of tissue specimens. 

We will also show you the different types of equipment and facilities that we use for our research.  Finally, you will have a chance to meet the people who are performing different parts of the research.  We plan to organize separate tours for children and adults, and both tours are open to everyone who is interested. 

If you want to participate in the tours, please RSVP by email to Dr. Maranke Koster and indicate the number of children and adults who will attend.

 

Hotel Information

If you would like to stay in Denver, we have booked a block of rooms at the following:
 
Springhill Suites by Marriott Denver at Anshutz Medical Campus
13400 East Coalfax Avenue
Aurora, CO  80011
 
$139 special rate (plus taxes)
 
Reservations should be made by 06/21/2015 via online booking link or call 720-859-1100 to get the special group discounted rate. 

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