News

May 18, 2020May 18, 2020

RANK Pathway Components May Be Markers of Bone Disease in Gaucher, Study Says

News

Components of the RANK pathway — a biological pathway that acts as a bridge between the immune and skeletal systems — may be used as markers of bone disease ... Read more

May 12, 2020May 12, 2020

Rare Diseases Clinical Research Network Opens Online Survey on COVID-19

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The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. ... Read more

May 11, 2020May 11, 2020

Cognitive Impairment, Depression May Predict Parkinsonism in Gaucher Patients, Study Says

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Non-motor symptoms, such as cognitive impairments and depression, may be used as early predictors of parkinsonism in Gaucher disease patients on enzyme replacement therapy (ERT), according to a recent ... Read more

May 4, 2020May 4, 2020

GCase Screening in Dried Blood Spots Can Diagnose GD Early in High-risk Groups, Study Says

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Measuring glucocerebrosidase (GCase) activity in dried blood spots is a reliable and cost-effective method to diagnose Gaucher disease early in individuals with splenomegaly (enlarged spleen) and/or thrombocytopenia (low blood platelet count), ... Read more

April 27, 2020April 27, 2020

Surge in Telemedicine One ‘Good’ Outcome from COVID-19 Crisis, Doctors Say

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While there are few silver linings to the cloud created by COVID-19, the pandemic that has killed tens of thousands, hobbled economies worldwide and drove millions to quarantine in ... Read more

April 22, 2020April 24, 2020

NORD Opens COVID-19 Financial Aid Program for Rare Disease Community

News, syndicated

The National Organization for Rare Disorders (NORD) has opened a financial assistance program for people in rare disease community who are affected by the COVID-19 pandemic in the U.S. ... Read more

April 20, 2020April 20, 2020

Potential Targeted Therapy for Cancer Shows Promise for Gaucher Disease, Study Finds

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A targeted therapy currently being investigated for treating certain types of cancer can overcome some of the limitations of standard enzyme replacement therapy and be a promising therapeutic avenue for ... Read more

April 13, 2020April 13, 2020

Imaging Technique May Help Monitor Gaucher Severity, Treatment Response, Study Says

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Magnetic resonance spectroscopy (MRS) — a specialized imaging test to visualize and measure the amount of fat in certain regions of the body — may help monitor disease severity ... Read more

April 6, 2020April 6, 2020

Avrobio Pauses Dosing in Phase 1/2 Trial of Gene Therapy for Gaucher

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Due to the current COVID-19 outbreak, Avrobio announced that it has paused dosing new patients in clinical trials of its gene therapy candidates, including a Phase 1/2 study testing ... Read more

April 2, 2020April 7, 2020

NORD’s Advice on COVID-19: You’re Stronger Than You Think

News, syndicated

First, the bad news: If you’re one of the 30 million or so Americans with a rare disease, you probably have lower immunity to the novel coronavirus than most ... Read more

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