News

April 4, 2019April 4, 2019

At Vienna Conference, Gaucher Experts Discuss Treatment of ‘Model Disease’

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Gaucher disease took center stage at a recent medical conference in Vienna, Austria, organized by Ari Zimran, MD, director of the Gaucher Clinic at Israel’s Shaare Zedek Medical Center. ... Read more

April 1, 2019

Gaucher-induced Spine Lesion Triggers Neurological Symptoms in Type 1 Disease, Case Report Says

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Patients with Gaucher disease type 1 may experience a complication involving the lower portion of the spinal cord, known as cauda equina syndrome, which causes long-term spine instability and ... Read more

March 28, 2019

Compound Selective for GBA Enzyme Leads to Better Gaucher Models in Zebra Fish, Study Reports

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Modified versions of a compound already used in Gaucher disease research are more selective and potent blockers of the key beta-glucosidase (GBA) enzyme and can be used to create ... Read more

March 26, 2019March 26, 2019

Enzyme with Cerezyme-like Properties Can Be Produced in Rice Cells, Study Says

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From genetically engineered rice cells, scientists have produced human beta-glucocerebrosidase (GCase) — the enzyme deficient in Gaucher disease — with some of the therapeutic properties of the treatment Cerezyme, a study reports. ... Read more

March 21, 2019March 21, 2019

Britain’s Madeline Collin Strives to be Voice of Hope for Other Gaucher Disease Patients

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Discouraged by doctors. Ridiculed by classmates. Challenged on the homefront. Despite the physical and emotional trauma endured by Madeline Collin — who has Gaucher disease — this cheerful 24-year-old says ... Read more

March 19, 2019

Gaucher Patients Should Be Monitored Carefully for Bone Health, Case Report Suggests

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Enzyme replacement therapy (ERT) has limited effectiveness in addressing bone-related symptoms in Gaucher disease, namely the death of bone tissue due to loss of blood supply, a case study ... Read more

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

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