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Research on Familial Spontaneous Pneumothorax

Source: Christine Kim Garcia, MD/PhD; UT Southwestern Medical Center

Our research focuses on identifying and studying families in which multiple members have suffered a spontaneous pneumothorax SP). It is hoped that by studying the genetics of these families, we will have a better understanding of what causes the pulmonary blebs whose rupture leads to this disease.

Do you qualify?
Your family will qualify for this research if more than 2 members have had a SP. If you don’t know if others in your family have had this disorder, ask older members of your family (such as your parents, aunts, uncles, and grandparents) for this information. The 2 individuals could be siblings, cousins, parent and child, or even more distantly related family members. We are excluding families in which the SP is a complication of another disease, such as Marfan syndrome.

What is involved?
We are asking for a blood sample from everyone in the family who agrees to participate. In addition, we would need a signed consent form, a completed questionnaire, and, in some cases, the agreement to release medical information about your SP.

How do you find out more information?
If your family qualifies, or if you would like more information, please contact:

Christine Kim Garcia, MD/PhD
UT Southwestern Medical Center
Dallas, TX 75390-8591
Email: Christine.garcia@utsouthwestern.edu
Telephone: 214-648-7424