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March 14, 2019

Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn

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Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of ... Read more

March 12, 2019

GD1 Patients Show High Prevalence of Irreversible Bone Lesions, Study Reports

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Adults with Gaucher disease type 1 (GD1) show a high prevalence of irreversible bone lesions, despite reaching treatment goals for reduced levels of blood cells, according to a study. ... Read more

March 11, 2019

Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist

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With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed ... Read more

March 7, 2019March 5, 2019

NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research

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Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known ... Read more

March 5, 2019

Aneurysms in Spleen Artery Underreported in Gaucher Patients, Case Report Says

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Although rare, aneurysms of the splenic artery are most likely underreported among patients with Gaucher disease, a case report study says. The case report, “Splenic Artery Aneurysms, a Rare ... Read more

February 28, 2019February 28, 2019

Gaucher Patients Have More Complications, Illnesses than the General Population, Israeli Study Suggests

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Gaucher disease patients — especially those receiving enzyme replacement therapy — have a higher incidence of complications and other diseases than the general population, and so they should be carefully ... Read more

February 26, 2019

Four New Gaucher Disease Mutations Found in Indian Patients

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A new study reports the spectrum of mutations present in Gaucher disease patients in India, identifying four previously unknown mutations and suggesting which ones might be most prevalent in that ... Read more

February 26, 2019February 25, 2019

WODC 2019 Organizers Expect 1,200 to Attend Rare Disease Conference in April

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The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have ... Read more

February 21, 2019

GD Biomarker Chitotriosidase Not Associated with Symptom Severity in Untreated Patients, Study Reports

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High activity of an enzyme called chitotriosidase (ChT) before treatment does not correlate with clinical or biochemical parameters in Gaucher disease, according to new research in Brazilian patients. The ... Read more

February 20, 2019

Vienna to Host RARE2019 Meeting on Rare Diseases

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About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The ... Read more

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