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Researchers have mapped in detail the molecular structure and dynamics of the cell receptor that “reads” the signals sent by the parathyroid hormone (PTH), which is defective in people  with hypoparathyroidism. The new insights may help develop more effective treatments with fewer side effects to modulate the activity of this…

RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site was developed by the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of…

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies (NCATS) at…

Cumbersome security procedures, rising airfares, and shrinking legroom have made commercial air travel difficult enough these days — even for healthy passengers. Imagine how much harder it is for patients with rare diseases who must get to doctors’ appointments or clinical trials that are hundreds of miles away from home.

Despite treatment, all patients with hypoparathyroidism experience physical and psychological symptoms that negatively impact their quality of life, a study finds. The findings were presented in a poster, “Understanding the Patient-centered Impact of Hypoparathyroidism on Functioning and Well-being,” by Ascendis Pharma during the Endocrine Society’s annual meeting,…

Chronic hypoparathyroidism is linked to long-term renal and cardiovascular complications, and can have severe implications on patients’ health-related quality of life, according to data from several studies. The data, presented by Takeda Pharmaceutical during the Endocrine Society’s 2019 Annual Meeting (ENDO) in New Orleans, also included the final outcomes regarding…