<p>The NHLBI "Grand Opportunity" Exome Sequencing Project (GO-ESP), a signature project of the NHLBI Recovery  Act investment,    was designed to identify genetic variants in coding regions (exons) of the human genome (the "exome") that are associated with    heart, lung and blood diseases.  These and related diseases that are of high impact to public health and individuals from    diverse racial and ethnic groups will be studied.  These data may help researchers understand the causes of disease,    contributing to better ways to prevent, diagnose, and treat diseases, as well as determine whether to tailor prevention    and treatments to specific populations.  This could lead to more effective treatments and reduce the likelihood of side effects.     GO-ESP is comprised of five collaborative components: 3 cohort consortia - HeartGO, LungGO, and WHISP - and 2 sequencing centers -    BroadGO and SeattleGO.</p>   <p>The syndrome of pulmonary hypertension (PH) is a pulmonary disease that carries very high morbidity and mortality.  Pulmonary  arterial hypertension (PAH) is a category of PH (WHO Group 1) that includes several entities (idiopathic or heritable PAH, and PAH associated  with other diseases such as connective tissue diseases including scleroderma-associated PAH) and carries a dismal prognosis, in particular  when it relates to scleroderma-associated PAH (median survival of about 4 years). It is believed that the severity of structural changes  involving the pulmonary vasculature and right ventricular failure are genetically determined.  The 'Genomics and Genetics of  Pulmonary Arterial Hypertension' study at Johns Hopkins University aims to identify genetic determinants associated with risk  of PAH in a cohort of European American and African American participants with and without PAH.  The study also focuses on patients  with scleroderma, who are further stratified according to those who have or do not have PAH.  The broad goals of the  Lung GO/ESP-GO falls into two general categories: (i) discovery of all variants (i.e., common and rare) in all protein-coding  regions of the human genome (i.e., the exome) conferring risk to complex pulmonary diseases including PAH.  The Johns Hopkins  University PAH cohort offers a unique opportunity to elucidate genetic variants that cause PAH.</p>

NHLBI GO-ESP: Lung Cohorts Exome Sequencing Project (Pulmonary Arterial    Hypertension)

3 selected publications including "Abnormalities in the Regulators of Angiogenesis in Patients with Scler..." (103 citations)

NHLBI GO-ESP: Lung Cohorts Exome Sequencing Project (Pulmonary Arterial Hypertension)

Abnormalities in the Regulators of Angiogenesis in Patients with Scleroderma

Antiangiogenic plasma activity in patients with systemic sclerosis.

The Current State of Biomarkers in Systemic Sclerosis