News

March 23, 2020March 23, 2020

Cerdelga Leads to Sustained Benefits in Type 1 Gaucher Patients, Study Says

News

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 ... Read more

March 19, 2020March 19, 2020

Younger Children With GD1 More Susceptible to Poorer Health-related Quality of Life, Study Suggests

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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. ... Read more

March 16, 2020March 16, 2020

Rare GD1 Genetic Profile Associated With Mild Symptoms, Study Finds

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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 ... Read more

March 12, 2020March 12, 2020

Specific Lipid Traced to Multiple Myeloma Risk in Type 1 Gaucher Patients

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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 ... Read more

March 9, 2020March 9, 2020

Pediatric Rare Disease Therapies Increase, But Most Repurposed, Study Finds

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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 ... Read more

March 5, 2020March 5, 2020

Video: BioNews’ Social Media Campaign Highlights #WhatMakesMeRare

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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 ... Read more

March 5, 2020March 5, 2020

Israeli Gaucher Clinic Treats Arabs With Disease Prevalent Among Ashkenazi Jews

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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 ... Read more

March 2, 2020March 2, 2020

Elsevier Opens Books, Review Articles to Rare Disease Researchers Starting Feb. 29

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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 ... Read more

February 27, 2020February 27, 2020

Advice on Starting Nonprofit Groups for Rare and Other Diseases Focus of NORD Webinar

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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 ... Read more

February 24, 2020February 24, 2020

Blood Levels of CCL18 Can Assess Gaucher Severity in Clinical Practice, Study Suggests

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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. ... Read more