News

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 for ... 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 therapies ... 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 was ... Read more

May 21, 2020May 21, 2020

Video Games Connect Chronically Ill Children Isolated at Home, Hospital

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 son, ... 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. The ... 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. Survey ... Read more

April 30, 2020April 30, 2020

Disruptive Germline Variants Do Not Drive Adult-onset HLH, Study Suggests

News

Germline variants — genetic mutations found in sperm or eggs that can be passed down to offspring — associated with hemophagocytic lymphohistiocytosis (HLH) are not more prevalent in patients with ... Read more

April 29, 2020April 29, 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 their ... Read more

April 23, 2020April 23, 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. Called ... Read more

April 16, 2020April 16, 2020

Multidisciplinary Teamwork Needed to Improve HLH Prognosis in Adults, Study Says

News

A highly cooperative multidisciplinary approach is crucial to improve the prognosis of adults with hemophagocytic lymphohistiocytosis (HLH), a study says. The study, “Hemophagocytic lymphohistiocytosis in adults: collaborative analysis of 137 ... Read more