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Symptoms of hypoparathyroidism were among the first signs of DiGeorge syndrome (DGS) in a man in whom standard treatment successfully restored calcium levels before surgery to remove his thyroid, which showed evidence of cancer, according to a recent case report. The report, “Newly Diagnosed Hypoparathyroidism as…
Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…
The European Commission has granted orphan drug designation to AZP-3601, Amolyt Pharma’s investigational therapy to treat hypoparathyroidism. Orphan designation is given to promising treatment candidates for life-threatening and debilitating rare diseases, those affecting not more than five in every 10,000 people in the European Union. The designation will…
BioNews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including conversations about advocacy, mental health, survivor’s guilt, treatment of minority patients, and more. The Monday event, “A…
A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…
A woman in China developed rare changes in her heartbeat, which were associated with low blood calcium caused by hypoparathyroidism, according to a case report. Using an electrocardiogram (ECG) — a line graph that shows how the electrical activity of the heart changes over time — scientists were able…
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…
Hypoparathyroidism caused a buildup of pressure around a young girl’s brain, according to a report from Italy focused on a difficult diagnosis. “Our case report is of particular interest, since the child did not present with typical neurological hypoparathyroidism symptoms,” the researchers wrote. “Therefore, we recommend that hypoparathyroidism should…
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.
Transplanting parathyroid gland cells into the forearms of a hypoparathyroidism rat model restored hormone and calcium levels, a study reported. These findings support further developing a parathyroid cell transplant for people with hypoparathyroidism caused by the removal of the parathyroid glands, the scientists said.
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