News

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…

If it weren’t for Gaucher disease, Rania Qwaider of Ramallah, Suheir Sandouka of Beit Hanina, and Rabah Mustafa of Nablus might never have become best friends. All three women are Palestinian Muslims with Gaucher type 1. Every other Wednesday, they brave traffic jams and security checkpoints to visit…

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…

The levels of a molecule known as CCL18 in the blood can be used in routine clinical practice to assess disease severity in patients with Gaucher disease, a study reports. The study, “Accuracy of chitotriosidase activity and CCL18 concentration in assessing type I Gaucher disease…

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…

The cough medicine ambroxol may be effective for relieving persistent bone pain in people with Gaucher disease, a case report suggests. The report describes how a high dose of ambroxol progressively relieved pain in a woman with Gaucher type 3 who had experienced persistent soreness in her…

A young man with Gaucher disease type 3 (GD3) developed fat deposits in the eye, called floaters, that impaired his vision despite long-term treatment with enzyme replacement therapy (ERT) and substrate reduction therapy (SRT), a case study reports. A surgery called vitrectomy — in which the…

The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to Prevail Therapeutics‘ investigational therapy PR001 for the treatment of Gaucher disease. In addition, the regulatory agency granted this potential gene therapy rare pediatric disease designation specifically for treating neuronopathic Gaucher, which…