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 180+ 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.
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.
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. Consultations will be scheduled for July 11-13, at the Lincolnshire Marriott Resort in Lincolnshire, Illinois. Travel stipends are available.
If you volunteer, please bring any reports from past genetic appointments and/or genetic test results. However, 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. They will not be drawing blood.
You may leave with a possible diagnosis. If so, that data will be recorded in our NFED database.
How You Can Participate
Which of the statements below is true for you or your loved one? Select the best one and take that action for it.
- “I/we only know that we have ectodermal dysplasia. I/we don’t know what type.” If this is you and would like to participate in the research project, sign up here.
- “I/We had genetic testing but it still did not tell me what type I/we have.” If this is you and would like to participate in the research project, sign up here.
- “I/We had genetic testing and we know our type of ectodermal dysplasia.” If this is you, fill out this short form. Choose your type from the drop down list for type of ectodermal dysplasia. In the message box, type “genetic testing confirmed.”
- “A medical or dental professional did a clinical exam and gave a specific diagnosis based on the symptoms I/we have.” If this is you, fill out this short form and choose your type from the syndrome drop down list. In the message box, type “health care provider diagnosed.”
If you want to enroll in the study but cannot be in Lincolnshire in July, email Becky at the NFED. She will follow-up with you with next steps.