NIH Grant PO1 HL072058-01A1 “Genetic and Environmental Pathogenesis of PPH”
The National Institutes of Health are funding a Program Project Grant (through 2008) for a five-year study including a registry of families with FPPH at
The major goals of the study are to find the gene(s) that causes PPH, identify possible modifier genes and/or environmental influences on disease incidence and severity, understand the function of these genes in causing disease, work toward understanding the effects of clinical genetic counseling and testing, and be a resource of information for patients and physicians.
The research is being conducted in collaboration with linkage geneticists at
The Faculty and Staff:
James E. Loyd, MD, Principal Investigator
John A. Phillips,
John H. Newman, MD, Project 1, Co-investigator
Ellen Wright-Clayton, MD, JD, Co-investigator
Ivan Robbins, MD, Co-investigator
Joy Cogan, Ph. D., Director, PPH Genetics Laboratory
Cindy Vnencak-Jones, Ph.D., Director, Clinical Molecular Genetics Laboratory
Vickie Hannig, MS, Clinical Genetics Counselor
Tatiana Foroud, PhD (need a title)
Daniel Koller, PhD (Title)
William Nichols, PhD
General Information About the PPH Family Registry
The incidence of PPH in the general population is about 1-2 per million. A NIH study of nearly 200 patients conducted at 30 US medical centers in the 1980's showed that only 6% of these patients had a family history of PPH. Symptoms, clinical course, and response to therapy of FPPH patients is similar to general PPH. The disease can be inherited from a male or female parent. The incidence is 2:1 females to males, similar to the general PPH population. FPPH is inherited as a dominant trait, although, many persons who carry the gene do not get the disease. A gene that causes FPPH has been identified, bone morphogenetic protein receptor 2 (BMPR2). This gene is associated with cell growth and development. "Mistakes" or mutations of this gene may lead to the formation of abnormal pulmonary blood vessel seen in this disease. Over eighty families are currently enrolled in the study. We are actively enrolling new families and expect to do so at least through 2008.
For more information contact:
NATIONAL REGISTRY FOR FAMILIAL PRIMARY
James Loyd, M. D., Director
Lisa Wheeler, Coordinator
Vanderbilt University Medical Center
T-1218 Medical Center North
Nashville, TN 37232-2650
1-800-288-0378 FAX 1-615-343-7587
A frustrating problem for many patients with pulmonary hypertension is the lack of information and literature that explains the problems and possible treatments. The Pulmonary Hypertension Association (PHA) is an organization of patients and family members, whose mission is to provide family support, education, and patient advocacy. For more information on how to contact PHA see below.
Pulmonary Hypertension Association (PHA):
PHA is primarily a volunteer support group for patients with pulmonary hypertension (PH) of any cause. The group is administered by PH patients and their families. They provide education for patients and physicians about the disease. They also have a nationwide system of support groups and maintain a listing of physicians experienced with treating PPH.
Contact them at following address and phone: