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January 21, 2020January 21, 2020

Case Report Highlights Need for Nutritional Research in Angelman Syndrome

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Nutrition is an important but under-discussed aspect of care in Angelman syndrome (AS), according to a case report that described the use of a gastronomy button in a child ... Read more

January 14, 2020January 14, 2020

FANS Trial Testing Ketone Supplementation to Help Control Seizures in Children With Angelman Syndrome

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A clinical trial is evaluating the safety and tolerability of a nutritional formulation containing the ketone beta-hydroxybutyrate (BHB) as a treatment to help control seizures in children with Angelman ... Read more

January 7, 2020January 7, 2020

Fertility Treatments Can Increase Risk of Angelman Syndrome, Other Disorders, Mouse Study Finds

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Fertility treatments could make babies more prone to genetic errors that lead to the development of Angelman syndrome and other disorders, an early study in mice has found. Contrary ... Read more

December 17, 2019December 17, 2019

Mosaic Angelman Should be Included in the Differential Diagnosis of People With Milder AS Symptoms, Study Suggests

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Clinicians should consider mosaic Angelman syndrome in the differential diagnosis of people who show milder symptoms of the disorder, a study suggests. The study, “Preserved expressive language as a ... Read more

December 11, 2019December 10, 2019

Gene Therapy Takes Center Stage at 2019 NORD Summit

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With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough ... Read more

December 10, 2019December 10, 2019

US Network of Specialized Angelman Clinics to Double Thanks to New Partnership

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As part of her medical training, North Carolina pediatrician Elizabeth Jalazo had studied a little about Angelman syndrome. “I knew enough about it to answer a board question, but ... Read more

December 5, 2019

HHS Secretary Alex Azar Touts White House Efforts to Cure Rare Diseases

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Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s ... Read more

December 3, 2019December 3, 2019

Angelman Advocate Launches ‘Combined Brain’ Rare Disease Consortium

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Terry Jo Bichell, whose son’s Angelman syndrome inspired her to go back to college at the age of 49 and get a PhD in neuroscience, has long advocated for ... Read more

November 26, 2019November 26, 2019

Blocking Activity of α1-NaKA Can Restore Certain Neurological Deficits in Angelman, Mouse Study Suggests

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Blocking the activity of sodium-potassium ATPase, an enzyme that is essential in maintaining ion balance in all types of cells, can restore calcium dynamics and other abnormal neurological features ... Read more

November 19, 2019November 19, 2019

Sarepta Therapeutics, StrideBio Team Up to Develop Gene Therapy for Angelman Syndrome, Other Diseases

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Sarepta Therapeutics and StrideBio are collaborating to develop viral-based gene therapies for treating Angelman syndrome and other central nervous system and neuromuscular disorders. Angelman syndrome is a neurological disorder caused ... Read more

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