Some mutations in non-coding regions of the calcium-sensing receptor (CASR) gene change the function of the resulting protein and are associated with hypoparathyroidism, a study suggests. While mutations in non-coding regions — DNA sections that do not provide instructions to produce a protein — do not directly alter the…
People with chronic hypoparathyroidism have a higher risk of disorders affecting the heart and blood vessels — known as cardiovascular disease — compared with those without the rare endocrine system disorder, according to a large-scale analysis of a medical claims database. “Further studies are warranted to investigate reasons for…
Being female, thyroid size, and having to undergo a second surgery are associated with the occurrence of short-term hypoparathyroidism following removal of the thyroid, according to a recent study. Risk factors for long-term hypoparathyroidism, the study also found, include thyroid size and low levels of the parathyroid hormone (PTH)…
At its first virtual investor event, biotech company Centogene set a bold mission: to cure 100 rare diseases within the next decade. A leader in the field of genetic diagnostics, Centogene used the June 22 event to present its strategic priorities, outlining its plans to speed the discovery…
Recovery of parathyroid function can take more than a year after thyroid gland removal, suggesting that longer follow-up periods could be needed to accurately diagnose permanent hypoparathyroidism, a study reported. Its researchers followed patients who didn’t quickly recover for an average of 28 months after surgery in making a determination.
To help patient advocacy leaders and their partners better understand how global health statistics codes — known as ICD codes — are assigned, updated, and revised in the U.S. health information system, the EveryLife Foundation for Rare Diseases is presenting a first-of-its-kind resource guide. The foundation created the…
In people with hypoparathyroidism caused by thyroid gland removal, the combined levels of magnesium and phosphorus in the blood best predicted the short-term return to normal parathyroid function, a study reported. Short term was defined by its researchers as a return to normal within 30 days of a thyroidectomy (surgical…
Those who wish to gain practical tools for living optimally with rare diseases are encouraged to attend the annual Living Rare Living Stronger Patient and Family Forum, hosted by the National Organization for Rare Disorders (NORD) and set this year for June 26-27. The conference brings together patients,…
Visen Pharmaceuticals has obtained regulatory clearance to start the PaTHway China Trial, a Phase 3 study of TransCon PTH as a hormone replacement therapy for people with hypoparathyroidism in China. The approval from China’s Center for Drug Evaluation of the National Medical Products Administration came on June 1,…
Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…
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