The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…
Hospital-based administrative data can be used to identify patients with pulmonary hypertension (PH) in medical records, according to a study done in Canada. These results, if validated, would pave the way for advances in the screening and treatment of PH, and help investigators improve epidemiological research into this rare…
Levels of fractional exhaled nitric oxide (FeNO) — a measure of how much nitric oxide a person exhales — may help diagnose pulmonary hypertension in patients with acute exacerbation of chronic obstructive pulmonary disease (COPD), a Chinese study suggests. Nitric oxide, called NO, is a vasodilator that helps…
It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.
Rac1, an enzyme involved in blood pressure regulation, is overly active in pulmonary artery smooth muscle cells (PASMCs) — the cells that line the walls of pulmonary arteries — of people with pulmonary arterial hypertension (PAH) and a mouse model of pulmonary hypertension (PH), a study shows. Notably,…
Among people who have had a heart attack, those with pulmonary hypertension (PH) are at high risk of heart failure, according to a new study. The study, “Clinical impact of pulmonary hypertension on the outcomes of acute myocardial infarction patients with or without chronic obstructive pulmonary…
Metabolic differences affecting energy production were observed in endothelial cells — the cells that line blood vessels — from patients with pulmonary arterial hypertension (PAH) and chronic thromboembolic pulmonary hypertension (CTEPH). These distinctions could underlie differences in disease mechanisms and necessary treatment approaches, according to a recent study.
Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…
Breathing reserve, a measure of lung function calculated during exercise, predicted survival in adults with congenital heart disease associated with pulmonary arterial hypertension (PAH), a study reported for the first time. Breathing reserve assessment in other diseases affecting blood vessels in the lungs also may predict survival outcomes, the…
A passive leg raise is equally as effective as exercise in measuring pulmonary vascular distensibility, a physiological marker to predict outcomes in people with pulmonary hypertension (PH), a study suggests. This finding is important for patients who cannot exercise or do not have access to clinical exercise facilities, the…
Identification of mutations in the ATP13A3 gene, which are associated with a severe form of pulmonary arterial hypertension (PAH), led doctors to select a riskier treatment approach for a 21-year-old woman to prevent her symptoms from worsening, according to a case study. “Short-term follow-up is encouraging, and the patient…
A calcium channel called TRPC6 may offer a new target for the development of treatments for pulmonary hypertension (PH), including pulmonary arterial hypertension (PAH), a mouse study suggests. Researchers also found that a calcium channel blocker called BI-749327, given orally, reversed PH in a mouse model of the…
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