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…
An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…
Removal of lymph nodes in the neck and invasion of neighboring tissues with thyroid cancer cells are risk factors for developing hypoparathyroidism following total thyroidectomy in children, a study reports. The study, “Risks of Hypoparathyroidism After Total Thyroidectomy in Children: A 21-Year Experience in a High-Volume Cancer Center,”…
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