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July 18, 2019

European Initiative Targets Diagnosis, Treatment of Rare Diseases

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A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of ... Read more

July 15, 2019July 15, 2019

New Mouse Model of Gaucher Type 3 May Aid Studies into Disease and Possible Treatments

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A new mouse model of Gaucher disease type 3 may be more useful for studies of disease biology and preliminary tests of possible treatments than those now in use. ... Read more

July 11, 2019

Lyso-Gb1 Biomarker May Be Useful for Monitoring Disease Activity in Children, Study Suggests

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Glucosylsphingosine (lyso-Gb1) seems to be a useful biomarker for monitoring disease activity in children with Gaucher disease, helping physicians determine when enzyme replacement therapy should be initiated, a study ... Read more

July 5, 2019July 8, 2019

Macedonian Gaucher Activist Publicizes Plight of Rare Disease Patients

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The challenges Vesna Aleksovska faced when she decided a decade ago to help fellow Macedonians with rare diseases were so daunting, they would have scared off all but the ... Read more

July 4, 2019July 4, 2019

World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients

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It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although ... Read more

July 1, 2019

Patients on Enzyme Replacement Therapy May Be Prone to Psychiatric Disorders, Study Suggests

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Gaucher disease patients on enzyme replacement therapy may be prone to psychiatric disorders, according to an Egyptian team of researchers. Their study, “Psychiatric manifestations in Egyptian Gaucher patients on ... Read more

June 27, 2019

Experts Identify Early Signs and Factors of Gaucher Disease to Help Reduce Diagnostic Delays

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The Gaucher Earlier Diagnosis Consensus (GED-C) initiative — a global project aimed at building expert consensus of the disorder’s diagnosis and management — has identified several clinical signs and ... Read more

June 25, 2019

NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala

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A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials ... Read more

June 24, 2019June 24, 2019

Cerdelga Has Favorable Long-term Safety Profile in Patients with Type 1 Gaucher Disease, Pooled Trial Data Show

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Cerdelga (eliglustat) has a favorable long-term safety profile consistent with previous observations among patients with type 1 Gaucher disease, pooled data from four completed trials show. The findings of ... Read more

June 21, 2019June 20, 2019

Eurordis Unveils Integrated-care Initiative for Rare Disease Patients

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Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, ... Read more

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