As researchers interested in human development, our studies focus on understanding the genetics and biology of limb development. One way to do this is to learn more about genes that form our limbs early in embryonic life. Genes are the instructions that our bodies use to grow and develop, and while some genes are well known in some instances, we still have much to learn.
We hope to enlist individuals and families with any of the Oral-Facial-Digital Syndromes to help us learn more about these rare syndromes and to find genes that cause these conditions. Learning more about the OFD syndromes and the genes that cause them will advance our understanding of these conditions and help both patients and the doctors who take care of them.
Patients for whom a diagnosis of OFD has been given or is being considered are eligible to join. While participation may vary from family to family, for most people, participation in our research will involve the following:
Please see our Frequently Asked Questions page about our study. We also welcome your phone calls if you wish to discuss the study with someone from our team.
Leslie G. Biesecker, M.D.
National Human Genome Research Institute (NHGRI)
National Institutes of Health
Last Reviewed: November 15, 2012