Sex-dependent behavioral and sensory symptoms in Angelman syndrome support the involvement of sex hormones in disease development and suggest that gender should be considered when treating patients, according to a study of mice. The study, “Sex-Dependent Sensory Phenotypes and Related Transcriptomic Expression Profiles Are Differentially Affected…
The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…
About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…
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 boundary element restricts UBE3A imprinting to mature neurons,” was published in the…
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 as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…
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 found. The study, “Mechanisms of sleep and circadian ontogeny through the lens of neurodevelopmental disorders,” was published in the…
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 define as including Dravet syndrome. All three designations are among some 70,000 diseases listed in the latest…
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 muscle atrophy(SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical trials, and how…
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 study is being conducted by Disruptive Nutrition, the keto-medical foods company subsidiary of Disruptive Enterprises, in collaboration with researchers…
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 measurements of brain responses, a study suggests. The study, “Social–emotional processing in nonverbal individuals with Angelman syndrome:…
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