Children’s National Health System no longer treats just kids. Its Rare Disease Institute, launched in April 2017, has partnered with the National Organization for Rare Disorders (NORD) to become the first of many U.S. “centers of excellence” to look after patients with rare diseases, regardless of age. The effort…
More therapies are now available for the 30 million or so people with rare diseases in the U.S. than ever before, and millions of dollars are being invested in clinical studies that will test new ways of evaluating — and advancing — potential treatments, including the use of natural history…
A recent report in the journal Internal Medicine, published by the Japanese Society of Internal Medicine, described the unusual case of a 78-year-old woman who had a rare combination of pancreatic mass and nodules in the airways and lungs — all consistent with a diagnosis of sarcoidosis. Sarcoidosis is characterized…
As Congress begins debate this week to overhaul the U.S. tax code, lawmakers should leave the Orphan Drug Act (ODA) — and the tax incentives it offers pharmaceutical companies to develop therapies for rare diseases — off the table. That’s the message being pushed by the National Organization for…
The U.S. Food and Drug Administration (FDA) recently awarded six research grants for natural history studies in rare diseases. One of the grants was awarded to Alicia Gerke, assistant professor of pulmonary, critical care, and occupational medicine at the University of Iowa. Gerke will receive approximately $300,000 over two…
Tumor necrosis factor (TNF) antagonists are effective therapies in a significant proportion of patients with severe and refractory sarcoidosis, a new study shows. However, they also are associated with adverse events such as infections and allergic reactions. The study titled, “Efficacy and safety of tumor necrosis factor…
A U.S. nationwide study found the number of cardiac sarcoidosis (CS) cases doubled from 2005 to 2011, concluding that the disease may not be as rare as researchers thought. CS is a life-threatening disease characterized by inflammation and accumulation of white blood cells in the heart. It is considered…
A research team at the Mayo Clinic in Rochester, Minnesota, evaluated the clinical records of cases of hepatic sarcoidosis over a 37-year period to describe the characteristics of the condition. The work results from the fact that the clinical characteristics and outcome of hepatic sarcoidosis are still not well-defined, and most of…
Patients with sarcoidosis have lower coronary flow velocity reserve (CFVR), a measure of disturbances in blood flow in heart muscles, compared to healthy volunteers, researchers found. The study, “Coronary flow reserve is reduced in sarcoidosis,” was published in the journal Atherosclerosis. CFVR is the maximum…
The incidence of sarcoidosis may be associated with breast cancer, according to a short report published in the European Journal of Internal Medicine. This finding highlights the importance of a suitable breast cancer patient’s follow-up to ensure early diagnosis and treatment of sarcoidosis. Sarcoidosis is believed to be caused…
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