Robert E. Ferrell, Ph.D., Department of Human Genetics, David N. Finegold, M.D., Departments of Pediatrics and Human Genetics, and Judith Esman, M.D., Physical Medicine and Rehabilitation Experts, 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 several families in which at least two members have been diagnosed with lymphedema. Lymphedema affects millions of individuals worldwide. Although the vast majority of these people suffer from secondary lymphedema, identification of the genes involved in primary lymphedema could help provide insight into the cause of the disease, as well as new strategies for its treatment. The goal of this project is to find and identify the genes responsible for primary lymphedema, also known as Milroy's and Meige's Disease.
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 information about the family's history is collected. In addition, DNA samples and medical history information from family members both with and without lymphedema are requested. 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 at least two individuals have been diagnosed with PRIMARY lymphedema are eligible to participate in this current study. You may e-mail Kelly Knickelbein, M.S., the coordinator of this project, at genetics@pitt.edu or call (412)624-4657 or (800)263-2152 for more information about the study and eligibility requirements. Please be sure to include the words LYMPHEDEMA or GENETIC in the subject line of any email sent to this address.
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