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February 18, 2019February 18, 2019

Researchers Identify Mechanism Involved in UBE3A Silencing in Angelman Syndrome

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Manipulation of the mechanism that controls UBE3A gene activation status in the brain may represent an alternative strategy to treat Angelman syndrome, a study suggests. The study, “A bipartite ... Read more

February 11, 2019

Patients, Family and Friends to Take Part in Variety of Rare Disease Day Events Worldwide

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Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run ... Read more

February 11, 2019February 11, 2019

Synaptic Dysfunctions May be Linked to Sleep Issues in Patients with Neurodevelopmental Disorders, Review Finds

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The close relationship between synaptic maturation and sleep may be the reason why many children with neurodevelopmental disorders (NDDs), including Angelman syndrome, experience sleep problems, a review study has ... Read more

February 4, 2019February 6, 2019

ICD-10 Codes, ‘Really Important’ to Rare Disease Patients, Soon Up for Fresh Consideration

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G71.01 is, literally, the code for Duchenne muscular dystrophy. Q93.51 stands for Angelman syndrome, and G40.419 covers generalized and treatment-resistant epilepsies, which groups like Orphanet and the American Epilepsy Society ... Read more

January 30, 2019January 30, 2019

FDA Revising ‘Draft Guidance’ on Developing Treatments for Rare Diseases

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The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal ... Read more

January 28, 2019January 28, 2019

Study Recruiting Angelman Syndrome Patients to Test Nutritional Ketone Formulation

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A clinical study has began to enroll patients with Angelman syndrome to explore the safety and tolerability of a nutritional formula supplemented with ketones for use in dietary interventions. This ... Read more

January 21, 2019January 24, 2019

Brainwave Study of Nonverbal Patients Finds No Change Between Known, Unknown Names

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Nonverbal patients with Angelman syndrome do not necessarily differentiate between known names — their own or those of others close to them — and unfamiliar names, as assessed through ... Read more

January 14, 2019January 14, 2019

Coffin-Siris Syndrome Should be Included in the Differential Diagnosis of Angelman Syndrome, Case Study Says

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Coffin-Siris syndrome (CSS) should be included in the differential diagnosis of Angelman syndrome, say researchers, after describing the case of a 14-year-old boy who harbored a genetic mutation associated ... Read more

January 7, 2019January 7, 2019

Brain Electrical Activity Can Help Evaluate Learning Skills in Nonverbal Angelman Patients

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Nonverbal Angelman syndrome patients can learn new information by exposure to repeated auditory stimuli, a new study shows. Measuring brain electrical activity can help evaluate patients’ auditory learning and ... Read more

December 21, 2018December 21, 2018

Angelman Syndrome Foundation’s Clinic Network Goes International

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With the addition of clinics in Canada and Israel, the Angelman Syndrome Foundation (ASF) now has an international network of Angelman Syndrome Clinics staffed with Angelman syndrome (AS) experts. ... Read more

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