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August 22, 2019

Cerezyme ‘Dramatically’ Eased Severe Liver and Lung Problems in Gaucher Patient, Case Study Reports

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Treatment with Cerezyme (imiglucerase), Sanofi Genzyme‘s enzyme replacement therapy, can effectively reverse severe pulmonary and liver complications triggered by Gaucher disease, a case report suggests. The study “Reversal of ... Read more

August 20, 2019August 19, 2019

Nebraska’s Neena Nizar Seeks Cure for Jansen’s, One of World’s Rarest Diseases

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Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people ... Read more

August 19, 2019

New GBA Mutation May Be Linked to Perinatal Lethal Gaucher Disease, Case Report Suggests

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A new mutation, H413P, that may be associated with severe symptoms was discovered in a Chinese baby with perinatal lethal Gaucher disease, a case report suggests. The report, “A ... Read more

August 12, 2019

Gain Therapeutics and Partners Win €1.4M Grant to Develop Treatments for Gaucher and Other Diseases

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A €1.4 million grant from the Eurostars-2 program, with funding from others, will support Gain Therapeutics and its partners in developing treatment candidates for Gaucher disease, Parkinson’s, and GM1 gangliosidosis. ... Read more

August 8, 2019

Ways Needed to Ease High Cost of Gaucher Care to Patients and State in Iran, Study Says

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Gaucher disease is among the more costly of chronic diseases to treat in Iran, and efforts are needed to minimize the financial burden facing patients and health authorities in ... Read more

August 5, 2019August 5, 2019

Psychologist Living with Gaucher Strives to Be ‘Role Model of Success’

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When school psychologist Wayne Rosenfield was 5 years old, he had an enlarged spleen. Doctors in his hometown of Springfield, Massachusetts, brushed it off, telling his parents: “He’s just ... Read more

August 2, 2019August 1, 2019

Oklahoma Ranks Lowest on Programs Key to Rare Diseases on NORD’s 2019 State Report Card

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Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage ... Read more

August 1, 2019

Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate

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Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state ... Read more

August 1, 2019

Scoring Swallowing Problems Helps Stage Neurological Decline in Type 2 GD Infants

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A scoring system of swallowing difficulties may be a simple and valuable way of staging neurological decline in infants with type 2 Gaucher disease, which is useful to guide ... Read more

July 29, 2019

Scientist Gets Funding to Create 3-D Bone Tissue Model for Gaucher

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A Penn State University researcher will use a $65,000 grant from the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC) to create a 3-D bone tissue model for the ... Read more

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