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 ankyloblepharon-ectodermal defects-cleft lip and/or palate (AEC) and ectrodactyly-ectodermal-dysplasia-clefting (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.

Initial Results

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.

Next Steps

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 tentatively planning to obtain skin biopsies from both AEC and EEC patients from July 10-13 at the upcoming National Foundation for Ectodermal Dysplasias Family Conference. We plan to do this beginning on the afternoon of Wednesday, July 10, 2019. If travel prevents your Wednesday arrival, we will schedule throughout the Conference. This will take place at the Lincolnshire Marriott Resort in Lincolnshire, Illinois.

If you would like to sign up to volunteer for this research study, please complete the research volunteer application form.

Looking forward to seeing everyone this summer!

Volunteer for P63 Study

Maranke Koster is an NFED-supported researcher at the University of Colorado Denver. She serves on our Scientific Advisory Council.

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