Ectodermal Dysplasia – Type Unknown
The National Foundation for Ectodermal Dysplasias (NFED) has partnered with Baylor-Hopkins Center for Mendelian Genomics in the Department of Molecular and Human Genetics at Baylor College of Medicine to launch a research study to identify a specific ectodermal dysplasia diagnosis for all individuals on our database. Richard Alan Lewis, M.D., M.S. is one of the primary investigators and a member of the NFED Scientific Advisory Council.
Many individuals have a diagnosis of ectodermal dysplasia but do not know which of the 100+ types they have. We call this “type unknown.” There are numerous benefits of having a specific diagnosis which you can read about here.
In this joint program, families which have never had a genetic explanation for the features of their ectodermal dysplasia will be enrolled in a research program that will undertake intensive studies of their genetics, both to find currently unknown genes responsible for the ectodermal dysplasia and to open new understandings of what is the normal function of that gene.
Dr. Lewis explains the project in this video.
Why Identifying Genes Is Important
Finding the responsible gene for a family with an unknown type of ectodermal dysplasia permits a precise diagnosis and thus counselling about its potential effects in other organs throughout life. It also allows accurate medical advice and counselling for relatives and future family members about the risks that the condition may re-occur. More importantly, finding the gene for a new medical condition is the first step in the path toward informed and properly directed treatment(s).
Finding the responsible gene is also a major stimulus for research. We cannot repair a broken piece of machinery without the blueprint from which it is built or knowing which part of the instruction manual is missing or improperly written. The same thing is true for our genes and DNA.
We have to know where the gene is altered or damaged and what it didn’t do correctly to find treatments and cures. If you don’t have an accurate diagnosis, it is possible that your family could miss out on future treatments. Diagnosis and gene identification is the first major step in finding new pathways to identify future therapies and to change its outcomes.
The research program is open to the NFED for the first 50 eligible families. Families must live in the United States. We seek individuals without a specific diagnosis to volunteer to participate in the study. You will have a free, one-on-one consultation with a geneticist, genetics counselor or physician to get a better understanding of the clinical symptoms you have.
You do not need to have previously met with a geneticist to participate in this study. Dr. Lewis and his team will give out Family History Questionnaires, Release of Records forms, explain, answer questions and enroll people in the study.
Families (at least the mom/dad/affected individual) must be willing to provide blood samples.
Are you concerned if participating in this study would have a negative impact on your insurance as the child ages into an adult? Research studies are privileged and not citable until either the family decides to confirm the results in a clinical laboratory or the family releases the results to someone else. The researchers don’t and cannot. Everything published (with family permission on the Consents) is totally anonymized.
How You Can Participate
To sign up for the Type Unknown study, we will need you to complete a short form. Kelley from our staff will review the form and respond to you with more information.Sign Up for Research Study
For More Information
If you still have questions, we encourage you to read our FAQ document.Download FAQ
You can also email Kelley or call her at 618-566-6873.