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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 20, 2020

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

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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 19, 2020May 19, 2020

COVID-19 Delays Clinical Studies of GT-AS for Angelman Syndrome, PTC Therapeutics Announces

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PTC Therapeutics is delaying by at least three months the submission of an investigational new drug application requesting that the gene therapy candidate GT-AS enter clinical trials for Angelman ... Read more

May 12, 2020May 12, 2020

Ovid CEO Has High Hopes for OV101 to Treat Angelman Worldwide

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Pharmaceutical industry leader Jeremy Levin believes his company is on the cusp of winning approval for the first medicine that treats the underlying cause of Angelman syndrome. Levin is ... Read more

May 11, 2020May 11, 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 5, 2020May 5, 2020

GTX-102 Placed on Fast Track by FDA for Angelman Syndrome

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The U.S. Food and Drug Administration (FDA) has given fast track designation to GeneTx Biotherapeutics and Ultragenyx‘s investigational therapy GTX-102 for Angelman syndrome. Fast track is given to speed the development and review ... Read more

April 28, 2020April 28, 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 22, 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 21, 2020April 21, 2020

New Rat Model Of Angelman Syndrome Might Advance Search for Therapies

News

A new rat model of Angelman syndrome (AS) involves complete deletion of the maternal UBE3A gene, which causes multiple behavioral and neurological abnormalities. This model could be useful for better ... Read more

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