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Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board of directors. “The pace of discovery in rare diseases has gone from brisk to hypersonic,” Summar told Bionews Services, publisher…

A genetic screening of a large Chinese population has revealed 14 new mutations linked to the early development of hypoparathyroidism. The study, “Genetic screening in a large Chinese cohort of childhood onset hypoparathyroidism by next-generation sequencing combined with TBX1-MLPA,” was published in 
The Journal of Bone and Mineral Research.

A case report in China suggests that a liver transplant may rescue hypoparathyroidism caused by Wilson’s disease, although the collected evidence is not yet sufficient to confirm this. A 19-year-old man with both conditions underwent a liver transplant to treat Wilson’s disease, a rare genetic disorder characterized by excess…

Takeda has issued a U.S. recall of its prescription parathyroid hormone Natpara, due to the potential risk of small rubber fragments detaching from the products’ external protection cap with repeated use. The recall includes all doses of Natpara (human parathyroid hormone, or PTH) for injection — 25 mcg,…

The probability a patient has of developing hypoparathyroidism and other complications after undergoing thyroid surgery tends to decrease if the procedure is performed by a surgeon who undertakes a high number of surgeries every year, a study has found. Results from the study, “Association Between Annual Surgeon Total Thyroidectomy…

Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest.    Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…

Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…

TransCon PTH normalizes blood levels of calcium and phosphate, and reduces the amount of calcium released in the urine in different animal models, a study shows. These preclinical results support the therapy’s use by people with hypoparathyroidism, the researchers say. The results, “Design and Preclinical Development of…

Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…

Approximately 15% of patients undergoing surgery to remove the thyroid gland, called a thyroidectomy, develop permanent hypoparathyroidism, an analysis shows. The extent and timing of the surgery, the expertise of the surgeon who performs the procedure, and the levels of calcium in the patient’s blood immediately after surgery are…