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Chasing the Pulmonary Hypertension Gene: What Have We Caught?

John Newman


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Conference: 2012 International PHA Conference and Scientific Sessions

Release Date: 01.04.2013

Presentation Type: Scientific Sessions

Chasing PH: What have we Caught?

Learning Objectives:

  • Discuss the clues that suggest a disease such as pulmonary hypertension may have a genetic basis
  • Describe how BMPR2 was identified as a likely candidate gene in pulmonary hypertension
  • Describe the frequency of BMPR2 mutations in heritable and idiopathic PAH

The medical world began the attack to understand and treat pulmonary hypertension in earnest in the early 1980’s, with the advent of calcium channel blocker therapy, the development of non-invasive detection of pulmonary hypertension by echocardiography, and the first large scale descriptive study, the PH Registry funded by the NIH. Before this dawn of hope, PH was a rare, mysterious rapidly fatal disease primarily of young women. Imbued by hope, patients and families started the Pulmonary Hypertension Association, and drew the physicians, nurses andscientists into the highly personal challenge of helping the patients that came to these health care workers for care. Since that time, the field has virtually exploded with new drugs, improved understanding of disease, and, even more so, the basic science that should lead to the next treatments or preventions that will mark further improvement inquality of life and normal lifespan. Some of the highlights of this journey will be presented, the present dilemmas will be discussed, and future needs will be anticipated.