News

Long-term treatment with Takeda’s parathyroid hormone therapy Natpara normalizes bone remodeling and bone density in people with hypoparathyrodism, according to a four-year study. This is the longest study of Natpara’s effects on bone structure in this patient population, as assessed with a non-invasive method called high…

The Living Rare, Living Stronger Patient and Family Forum, originally set for May 14–16 in Cleveland, Ohio, has been postponed until July 18–20 because of the coronavirus disease COVID-19 pandemic. The event’s sponsor, the National Organization for Rare Disorders (NORD),…

A novel mutation in the TBX1 gene caused hypoparathyroidism and deafness in a man and his three children, a case study reports. The study, “A Novel TBX1 Variant Causing Hypoparathyroidism and Deafness,” was published in the Journal of the Endocrine Society. Hypoparathyroidism is caused by low levels of…

Even with the coronavirus pandemic ravaging Europe and much of the world, patient advocate Lucia Monaco, PhD, of Italy remains confident that the Paris-based nonprofit she chairs will see the approval of 1,000 new rare disease therapies by 2027. That group, the International Rare Diseases Research Consortium (IRDiRC) —…

Patients with DiGeorge syndrome tend to experience hypoparathyroidism symptoms earlier — and ones that are milder — compared to those with idiopathic hypoparathyroidism, a study has found. The study, “Clinical and Genetic Findings in a Chinese Cohort of Patients With DiGeorge Syndrome-Related Hypoparathyroidism,” was published in…

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…

In recognition of Rare Disease Day Feb. 29, Bionews Services launched a social media campaign last month asking patients to describe what makes them rare. Running Feb. 7–29, the #WhatMakesMeRare campaign was aimed at uplifting people with rare diseases by encouraging them to share their stories and perspectives. The…

Careful identification and dissection of the parathyroid glands during thyroid surgery can reduce the risk of hypoparathyroidism after the procedure, a study suggests. The study, “Risk Factors of Incidental Parathyroidecomy in Thyroid Surgery,” was published in the journal Cureus. Hypoparathyroidism is…

Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well…

Starting a 501(c)(3) tax-exempt nonprofit isn’t easy, but the National Organization for Rare Disorders gave a few tips for those  looking to begin the complex process in its Feb. 20 webinar.  William Whitman…