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June 25, 2019

NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala

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A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials ... Read more

June 24, 2019June 24, 2019

20-Year Mystery of Girl with Angelman and 2nd Rare Disease Solved via Genetic Testing

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Scientists, armed with new technologies, cracked a 20-year mystery surrounding a girl diagnosed with two rare inherited disorders, Angelman syndrome and cholesterol side-chain cleavage enzyme (P450scc) deficiency, by finding ... Read more

June 20, 2019

Eurordis Unveils Integrated-care Initiative for Rare Disease Patients

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Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, ... Read more

June 17, 2019June 17, 2019

‘Rare Barometer’ Program Helps Eurordis Shape EU Rare Disease Policy

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People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most ... Read more

June 3, 2019June 3, 2019

Scientists Develop Quick, Accurate Diagnostic Test for Angelman and Prader-Willi Syndromes

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Researchers have developed a new quick and accurate molecular diagnostic test for patients with either Angelman and Prader-Willi syndrome. Their study, “A rapid and accurate methylation‐sensitive high‐resolution melting analysis ... Read more

May 27, 2019May 24, 2019

Agency Unveils RaDaR to Help Patient Groups Develop Rare Disease Registries

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RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site ... Read more

May 24, 2019May 24, 2019

Roche Researcher Plans Clinical Trial Seeking Ways to Measure Disease Impact in Home and Clinic

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Swiss pharmaceutical giant Roche plans to begin recruiting this summer for an endpoint study in Angelman syndrome that will not test any drug therapy. Instead, the study aims to ... Read more

May 20, 2019May 20, 2019

#AANAM – OV101 Improves Motor Function, Sleep, Behavior, Phase 2 Trial Shows

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Ovid Therapeutics’ experimental therapy OV101 has been shown to improve sleep, motor function, communication skills, and reduce challenging behavior and anxiety in patients with Angelman syndrome in a Phase ... Read more

May 17, 2019May 17, 2019

Hyperactivity, Irritability and Outbursts in Children with Angelman Cause Stress for Parents, Study Finds

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While children with Angelman syndrome typically show happy, excitable behavior, they also are prone to hyperactivity and irritability, and tend to have short attention spans and aggressive outbursts — ... Read more

May 15, 2019May 15, 2019

Rare Diseases Constitute a ‘Public Health Issue,’ NCATS Director Warns

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With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been ... Read more

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