News

Using a process called imprinting, researchers at Howard Hughes Medical Institute have discovered a new mechanism that cells use to control which genes are turned off during fetal development. The finding adds new knowledge to the underling mechanisms of developmental and neurological disorders, such as Angelman syndrome or Beckwith-Wiedemann…

A specific frequency of brain rhythms detected in electroencephalograms (EEG), called delta oscillations, may serve as a valuable biomarker for Angelman syndrome, a new study says. According to researchers, delta anomalies are increased in the brain of children with Angelman syndrome, and occur both when…

Researchers from the University of Connecticut School of Medicine have turned stem cells from patients with Angelman syndrome into neurons to investigate how the disease affects these cells. The neurons had faulty maturation and electrical activity, as well as decreased ability to communicate with each other.

Agilis Biotherapeutics is collaborating with the Gene Therapy Research Institution (GTRI) in Japan to develop and manufacture a new adeno-associated virus (AAV) gene therapy for Angelman syndrome (AS) and other rare genetic disorders. Angelman patients lack the maternal copy of the UBE3A gene. In certain brain areas, only…

Researchers at the National Brain Research Centre in India have shown that inhibitors of the proteins HDAC1/2 might be a potential therapeutic for the treatment of Angelman syndrome (AS) as increased activity of the HDAC1/2 causes brain dysfunction and behavioral issues in mice with AS. The study, “Rescue…

A new, revised protocol of the non-invasive prenatal test (NIPT) Panorama identifies genetic abnormalities underlying Angelman and four other syndromes with higher accuracy and efficiency than the original test, a study found. The study, “Clinical Experience with a Single-Nucleotide Polymorphism-Based Noninvasive Prenatal Test for Five Clinically Significant…

Roche and representatives of parent-driven organizations are collaborating on the first part of a study whose objective is to design better clinical trials and speed up the development of Angelman syndrome treatments. The aim of the initial part of the study is to gain a…

A recent review highlights the latest findings on the role of a group of molecules called long noncoding RNAs (lncRNAs) in neurodevelopmental disorders such as Angelman syndrome. The review, titled “Long noncoding RNA and its contribution to autism spectrum disorders,” was published in the journal CNS Neuroscience & Therapeutics.

Dennis Vanderheiden of Fort Collins, Colorado, is propelling two people forward as he cycles 585 miles in 13 days across his home state to raise money for Angelman syndrome research. A buddy with the disorder, Paul James (P.J.) Snyder, is riding in the bike trailer that Vanderheiden pulls across Colorado’s…

ANAVEX 2-73 significantly reduced sound-triggered seizures in mice with Angelman syndrome, according to a preclinical-trial study. Its developer, Anavex Life Sciences, reported the results at the Antiepileptic Drug Trials XIV 2017 Conference  in North Miami Beach, May 17-19. The presentation was titled “ANAVEX 2-73,…