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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Participants Needed

40 Women Strong Program

Edimer Pharmaceuticals' XLHED Genotyping Initiative for Women

Edimer Pharmaceuticals is pleased to announce the launch of the 40 Women Strong: an XLHED Genotyping Initiative for Women. This initiative is offering 40 women the opportunity to learn whether or not they are a carrier of XLHED by receiving genetic testing at no cost.*

This may be particularly important for women who are considering starting a family or expanding their current family. Participation in this program is entirely voluntary and you can stop participating at any time.

1. To learn more about the genotyping initiative.

2. To get started click the green button, “Click Here to Find Out if You Qualify.” You must be a member of the XLHED Network to participate, so you will need to fill out the confidential membership questionnaire through this button.

3. Based on the information you provide, you’ll be told whether or not you are eligible to participate in the genotyping initiative.

4. If you qualify and choose to participate you will receive a welcome kit via e-mail providing instructions on how to participate.

To participate, women must be 18–35 years old and a member of theXLHED Network. If you are already a member, simply retake the membership questionnaire to find out if you meet the eligibility criteria for this program.

If you have any questions about this program please email Carrie Milliard , CGC. Carrie is a certified genetic counselor from Maine Medical Center who works with Edimer on a consultant basis.

Thank you for your interest in this program. Your contribution to the community is appreciated. Together with the contributions of the other participants, you have the ability to potentially help future generations affected by XLHED.

Sincerely,

Ramsey Johnson

Director, Clinical Operations

Edimer Pharmaceuticals

*The genetic analysis is conducted at no cost; however, participants are responsible for associated costs such as doctor’s office visits, the blood draw, etc.

Ectrodactyly-Ectodermal Dysplasia–Clefting (EEC) Syndrome

The NFED has made EEC syndrome one of our research priorities for the next several years. We are seeking individuals affected by EEC syndrome to complete a preliminary survey to help us better understand your symptoms and treatment needs. If you or a family member is affected by EEC syndrome, download BOTH the EEC survey and the Client Survey found below and complete them for each affected family member. Mail completed surveys to our office. Thank you!

Download EEC Survey

Gene for Goltz Syndrome Identified

Dr. Van den Veyver and her research team continue to enroll families with Goltz syndrome for their studies. If you or a family member are affected by Goltz syndrome and would like to participate in Dr. Van den Vyver's study, contact Mary Fete.

The future research in Dr. Van den Veyver's lab will focus on understanding the normal function of PORCN and how its abnormal function leads to the features of Goltz syndrome. This will be done by analyzing the mouse model for Goltz syndrome that is being generated. The researchers will also study the gene's function and the effect of mutations in cell culture experiments. Now that the gene is known, it will also be important to continue to study the individuals who have Goltz syndrome to better understand how specific changes in the gene may relate to specific features.

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