Families attending the 2012 National Family Conference in Orlando, July 18-21, have the opportunity to volunteer for the four projects listed below. To participate, sign-up on the 2012 national family conference registration form. You will receive your assigned research times when you check-in at registration on Wednesday, July 18th at the conference.

Questions? Email Mary Fete at the NFED office at mary@nfed.org.

1. XLHED Growth Study

Edimer Pharmaceuticals

Edimer’s first study will address the significant growth in XLHED-affected boys. As previously reported from an NFED-sponsored study (Motil et al. 2005), weight for height deficits are present in childhood and adolescence. In collaboration with experts in growth and nutrition at UCSF, Edimer is developing a screening panel of tests that could provide new insights into why this occurs and how best to correct abnormal growth.

2. XLHED Facial Recognition Study

Edimer Pharmaceuticals

Edimer’s second study addresses the issue of how to identify babies and children at high risk of being XLHED-affected through the use of computerized facial recognition software. This is a new area of research that could provide a “newborn screening tool” for genetic disorders based on a simple, frontal photograph. The study would involve a photograph taken at the Family Conference and a copy of a baby photograph that you would bring with you. These will be sent to the software company to be digitized. Computer programs can then find the common features for XLHED that could be applicable in identifying affected individuals in all races and ethnic groups.

3. Oral Health and Quality of Life

Researchers will look at the dental manifestations associated with ectodermal dysplasias in patients and the impact of these challenges on their quality of life.

4. Goltz Syndrome/Focal Dermal Hypoplasia
Dr. Ignatia Van den Veyver and Research Team
Baylor University
Stem cells are the basic building blocks of life. As stem cells grow in a laboratory dish, they are able to produce millions of copies of themselves in a few days thus providing us with an unlimited supply of cells for research purposes. At the same time, these cells can change and acquire specialized functions of all known tissues and organs, such as muscle, blood, brain and skin.

With a recent breakthrough in stem cell research, it is now possible to produce stem cells from skin cells of any person. These cells are called induced pluripotent stem cells, or iPS cells. One of the most important applications of iPS cells is in the study of human disease: by producing iPS cells from skin cells of people afflicted with a particular disease, we are now able to study the disease in the laboratory.

The goal of our research project is to harness the power of this iPS cell technology to study Goltz syndrome, also known as focal dermal hypoplasia. In the first stage of this research, we will manipulate skin cells obtained from patients with Goltz syndrome to obtain iPS cells in a Petri dish.

In the second stage of this project, these iPS cells will serve as the “raw material” to study Goltz syndrome in the dish. Such a “disease-in-a-dish” model for Goltz syndrome will allow us to gain a better understanding of this disease and perform drug screens to identify and design approaches to treat the symptoms associated with this disease.

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