News

June 23, 2020June 23, 2020

Alexion Charitable Foundation Giving $1.1M to Assist Rare Disease Community During Pandemic

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will ... Read more

June 22, 2020June 22, 2020

Long-term Cerezyme Followed by Cerdelga Delayed Bone Loss in Gaucher Type 1 Case Study

News

Using a non-invasive high-resolution imaging method, physicians found that long-term treatment with Cerezyme (imiglucerase) followed by a switch to Cerdelga (eliglustat) seemed to prevent or delay bone loss in ... Read more

June 15, 2020June 15, 2020

Two Pro-inflammatory Proteins May Be Biomarkers of Gaucher Type 1

News

People with type 1 Gaucher disease have higher blood levels of two pro-inflammatory proteins than do healthy individuals, a small study suggested. The proteins may be biomarkers to help monitor ... Read more

June 10, 2020June 10, 2020

Coalition Will Address Racial Disparities in Rare Disease Communities

News

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis ... Read more

June 8, 2020June 8, 2020

Cerdelga Effective for Gaucher Type 1 in Real-world Setting, Study Shows

News

After two years of Cerdelga (eliglustat) therapy, patients with Gaucher disease (GD) type 1 maintained or improved their spleen or liver health, and their red blood cell and platelet ... Read more

June 1, 2020June 1, 2020

Liver Health Needs Constant Monitoring in Gaucher Patients, Study Says

News

Although standard therapies for Gaucher disease (GD) usually reduce liver damage, some forms of treatment — particularly enzyme replacement therapy (ERT) — seem to be linked to a higher ... Read more

May 28, 2020May 28, 2020

COVID-19 Delaying Rare Disease and Gene Therapy Trials, Pharma Execs Say

News, syndicated

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene ... Read more

May 25, 2020May 25, 2020

Eurordis Urges Expansion of Newborn Screening Initiatives Across Europe

News, syndicated

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session ... Read more

May 21, 2020May 21, 2020

Video Games Connect Chronically Ill Children Isolated at Home, Hospital

cystic fibrosis, News, syndicated

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

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