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NIH Agency Pioneers Collaborative Research into Rare Diseases

A little-known government entity within the National Institutes of Health (NIH) is helping to lead U.S. efforts to speed up the development of therapies for some 7,000 rare diseases. The Office of Rare Diseases Research (ORDR), headquartered in Bethesda, Maryland, was established in 1993 within the NIH Office of the…

Early Detection of Neurodevelopmental Disabilities May Improve Angelman Patients’ Outcomes

Early and careful detection of the spectrum of neurodevelopmental disabilities in children with Angelman syndrome is essential to planning personalized rehabilitation programs and improving outcomes, research suggests. These findings emphasize the need for early diagnosis, particularly of neurovisual disorders, which can seriously contribute to cognitive impairment…

Oral Diazepam Curbs Children with Angelman Syndrome’s Nonconvulsive Epilepsy, Study Shows

Oral diazepam is an effective treatment for Angelman syndrome patients who have prolonged seizure activity without convulsions, a study shows. It is also safe, researchers said. The study, “Diazepam for outpatient treatment of nonconvulsive status epilepticus in pediatric patients with Angelman syndrome,” appeared in the journal Epilepsy & Behaviors. Diazepam,…

Low Blood-sugar Diet Reduces Angelman Patients’ Seizures, Study Shows

A diet that keeps blood sugar levels in check can help Angelman syndrome patients reduce the number epileptic seizures they have, Massachusetts researchers report. The Massachusetts General Hospital team said the diet, called low glycemic index treatment, or LGIT, also improved patients’ cognition, physical function, and behavior. Their study, published in …