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) —…
Long-term treatment with Cerdelga (eliglustat) safely and consistently lessens or stabilizes disease severity in adults with Gaucher disease type 1 (GD1), according to a six-year study in five patients. The findings are consistent with results from previous studies, further supporting Cerdelga’s safety and effectiveness in this…
Children with type 1 Gaucher disease are more likely to experience social withdrawal, anxiety, and depression with poorer health-related quality of life than their peers without the disorder, researchers suggest. However, no such problems were observed in young adults who have the disorder. The study, “Quality of…
Children and adults with a rare genetic profile causing type 1 Gaucher disease (GD1) may exhibit mild symptoms and not require treatment, research suggests. The study, “The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling,” was…
Developing abnormal antibodies specific to glucosylsphingosine — a fat that builds up in cells of Gaucher disease patients — may be the cause of monoclonal gammopathy, and explain why patients with type 1 disease…
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…
