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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, 2019September 10, 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

July 25, 2019July 25, 2019

Centogene Rolls Out Free Biomarker App for Gaucher Patients

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Germany’s Centogene is introducing a free smartphone app that lets people with Gaucher disease monitor their own progress. But an organization that represents Gaucher patients is concerned about what ... Read more

July 22, 2019

Pentosan Polysulfate May Reduce Inflammation in Gaucher, Fabry, Study Suggests

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Pentosan polysulfate (PPS), an approved medicine, may be a potential add-on treatment for Gaucher disease, helping reduce inflammation and bone alterations in cellular models of the condition, a study ... Read more

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