Nearly half of all birth defects involve the face and skull. To better understand face and skull birth defects, researchers with University of Iowa Health Care are developing a first-ever encyclopedia database on how the faces of healthy children develop and what goes amiss, causing birth defects.
Jeff Murray, MD, co-principal investigator of the initiative and pediatrician at University of Iowa Children's Hospital, talks about this initiative:
What is this initiative effort called?
It's called FaceBase and this will be a database of information related to how the face develops and its role in normal and abnormal disorders.
Who is funding the FaceBase project?
The project is fund by the National Institutes of Health (NIH) NIH overall and by the National Institutes of Dental and Craniofacial Diseases component. It will be funded for five years to begin with. The hope is that this will serve as a site that can be built into other aspects of facial development, as well.
How many sites nationwide will be involved in creating FaceBase?
Initially there are 12 total sites. There are two of us—UI and the University of Pittsburgh—that are the hub, the organizational component for it. There are 10 feeder projects that will provide specific information regarding human or animal model or imaging aspects of facial development.
What role will The University of Iowa play in the development of the FaceBase database?
Iowa's had a longstanding history of being involved in craniofacial development. We were fortunate to be selected to continue our involvement in this area. We'll work along with Dr. Marazita at the University of Pittsburgh on administrative activities related to building of a Bio repository that will contain samples from individuals who have craniofacial abnormalities. We'll also build a wiki to provide data and information about genes related to facial development and where the public will have an opportunity to participate.
How will information be gathered for the database?
We'll get information from several sources. We'll collate data already available in publications and through open resources. We'll recruit data from other investigators working in areas related to craniofacial development, even if they're not formally a part of FaceBase. There's a major effort to create new data through the hub and spoke .Those new projects will feed data directly into the hub as well.
In a normal pregnancy, when does the face start to develop?
Around week six of gestation, the basic structures of the eye and the ear and the mouth and so on, as well as the underlying brain, are beginning to become recognizable.
This stage is the same in many other animal species—things like mice and chickens and fish—all have faces that look almost the same as a human face at early stages of development. So one thing FaceBase will do will be to take information from those other model systems to help us better understand the human face.
Will this database map common facial birth defects?
Yes, there will be a discovery process related to this where we look for both new genes as well as environmental factors that play a role in facial development. The hope is that by having a large database of available samples and information that many investigators can come and do data mining to map and identify new causes. We want to stress that the environment is also an important component of this, so we'll include environmental information. We already know, for example, that smoking is a potential risk factor for cleft lip and palate.
How will the development of a database of a healthy face help identify birth defects of the face?
Science is a very complicated and complex pursuit these days. There are many powerful technologies and analytic approaches to identifying information, but all of these require substantial expertise. The idea is to bring together people who have complimentary expertise to work in a collaborative way. Having the information centrally located will enable one-stop shopping for people who want to find out more about facial development, whether it be in a model they're working on or human-specific things. We hope it will also serve as a resource to build not only collaborations but to provide training opportunities for new investigators and students entering this field.
Who will have access to use the FaceBase database when it is developed?
It will have a public interface. We want the general public to be able to use it. It will have links to support groups or craniofacial care centers as well as an educational component that will provide information about facial development and the causes of facial defects and so on.
Besides the publicly available resource, there will be a deep resource of scientific information that will come from patient-based material. In those cases, you have to get institutional review board or ethical approval to have access to it so we can protect the rights of the individual participants in a project.
FacesBase will have images of the human face and so participants will be recognizable. We want to be sure the people who contribute to this will have their information protected. |
