The discovery of the gene associated with the inherited form of primary pulmonary hypertension (PPH) by Drs. Jane H. Morse of Columbia University and James A. Knowles of the Columbia Genome Center is indeed a major breakthrough.
Their study, funded in part by the National Heart, Lung, and Blood Institute at the National Institutes of Health and published in the September issue of the American Journal of Human Genetics, provides new insights for determining the molecular basis of PPH and opens new avenues of study for understanding the fundamental nature of both familial and sporadic PPH.
PPH is a rare lung disorder which is usually fatal. It affects primarily women of child bearing age, although it is known to also affect men and people of all ages, including young children.
Because its incidence is low, learning about the disease has been difficult. Although there may be more than one cause of PPH, the identification of a gene that is associated with the inherited form of the disease takes us one step closer to understanding its causes and provides essential information that should lead to the design of more effective therapies for this devastating condition.
More information about Primary Pulmonary Hypertension is available on the NHLBI Web site at www.nhlbi.nih.gov.