News

May 21, 2020May 21, 2020

Video Games Connect Chronically Ill Children Isolated at Home, Hospital

Dara Riva always had a rule that her 10-year-old son could play video games only once a week. But then the COVID-19 pandemic struck, and her perspective changed. Riva’s ... Read more

May 19, 2020May 19, 2020

Unity and EU-wide Efforts Focus of Online Rare Disease Meeting

News, syndicated

Eurordis, a Paris-based coalition of national rare disease associations across Europe, hosted its first all-virtual conference, bringing some 1,500 delegates from 57 countries together online during the COVID-19 pandemic. ... Read more

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

News, syndicated

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

News

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

News

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

News, syndicated

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

News

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

News

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

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