For many years, the National Foundation for Ectodermal Dysplasias (NFED) has supported Dr. Maranke Koster’s research to develop new treatments for skin in ankyloblepharon-ectodermal defects-cleft lip and/or palate (AEC) syndrome or ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.

(AEC syndrome was formerly known as Hay Wells syndrome or Rapp Hodgkin syndrome.)

She is looking for individuals affected by these syndromes to volunteer for her study. You can read more about it below.

Dr. Koster and her team plan to collect skin biopsies on July 10, the day before our Family Conference begins in Chicago at the Lincoln Marriott Resort. If needed, biopsies will also be collected July 11-13 at that location. As of now, these are the only dates and the only location for biopsies.

The NFED is offering travel stipends for research volunteers. Past volunteers can participate again.

How to Sign Up to Volunteer

If you are interested in volunteering, please click on the button below and complete the form. You can also apply for the travel stipend using this same form.

UPDATE: Registration for this study has closed.

Ongoing Research Into Skin Lesions in Patients Affected by AEC and EEC

By Maranke Koster, Ph.D.

The long-term goal of our research is to design novel therapies for the treatment of skin and cornea lesions that occur in AEC and EEC patients. In the past, many of you have donated skin biopsies to support this research. 

These skin biopsies were used to generate induced pluripotent stem cells (iPSC). iPSC are an unlimited source of special stem cells that can be directed to turn into any cell type of the body. We are using these iPSC to generate cells of the skin and cornea. Our goal is to use these cells to understand how skin and eye diseases develop in AEC and EEC patients.


Our initial results are very encouraging. For example, we found that iPSC-derived AEC skin cells do not properly adhere to each other. The underlying molecular defects could explain the skin fragility observed in many AEC and EEC patients.

However, it is always important to go back and to make sure that what we observe in the laboratory truly mimics what happens in patients. This is essential to prove that our iPSC-derived skin cells are good disease models.

To do this, we will need to look at actual skin of AEC and EEC patients. We cannot use the skin biopsies we previously obtained, because they were all used to generate iPSC.


Therefore, we are planning to obtain skin biopsies from both AEC and EEC patients at the upcoming NFED Family Conference, July 10-13. 

Looking forward to seeing everyone this summer!

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