Robert E. Ferrell, Ph.D., David N. Finegold, M.D., and Kara Levine, M.S. at the Department of Human Genetics are working to determine the genetic basis of primary (or inherited) lymphedema. The purpose of this study is to investigate the genetics of PRIMARY lymphedema using families in which at least one member has been diagnosed with primary lymphedema.

Since the study's inception in 1995, several hundred families have been recruited into the Lymphedema Family Study and at least 4 new causative genes have been identified within some of these families.

This study does not involve diagnosis or treatment of lymphedema, and it was not designed to provide any direct benefit to the participants. However, it is our hope that it will benefit many lymphedema patients in the future.

Participation of families involves telephone interviews with several family members during which medical and family history information is obtained. In addition, blood or saliva samples are requested from family members both with and without lymphedema in order to obtain DNA. We use this DNA to search for genes that may be involved in causing primary lymphedema.

Participation is entirely voluntary, and even if a family elects to participate, individual family members may refuse participation or withdraw from the study at any time. Families in which one or more individuals have been diagnosed with PRIMARY lymphedema are eligible to participate in this current study. You may e-mail Kara Levine, M.S., the coordinator of this project, at or call (412) 624-4659 for more information about the study and eligibility requirements. Please be sure to include the word "LYMPHEDEMA" in the subject line of any email sent to this address.