Author Archives: Iqra Mumal, MSc

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 by the loss or malfunction of the maternal copy of the UBE3A gene in neurons found in specific…

Hypsarrhythmia — disorganized and chaotic brain activity with no recognizable pattern — may be an early marker of Angelman syndrome, according to a case study. The report, “Pseudo Hypsarrhythmia: An Early Marker of Angelman Syndrome,” was published in the Annals of Indian Academy of Neurology. Although seizures…

EpiSign is a newly developed blood test that helps diagnose several diseases, including Angelman syndrome, based on specific genetic changes in cells. EpiSign was developed as a collaborative effort between Greenwood Diagnostic Laboratories at the Greenwood Genetic Center in South Carolina and Ontario’s London Health Sciences Centre (LHSC). Diseases can develop in…

A significant proportion of mothers of children with rare genetic syndromes, such as Angelman syndrome, experience levels of stress similar to those reported by mothers of children with autism — a group that has been previously identified as at high risk for mental health difficulties, a study shows. The study,…

Abnormalities in a protein complex crucial for cell survival are likely caused by increased levels of the p18 protein and result in motor and cognitive issues in Angelman syndrome, a new mouse study shows. A study titled “UBE3A-mediated p18/LAMTOR1 ubiquitination and degradation regulate mTORC1 activity and synaptic plasticity”…

PTC Therapeutics will acquire Agilis Biotherapeutics and its gene therapy program for Angelman syndrome. The transaction is expected to be completed in a few months. Agilis is a biopharma focused on developing gene therapies for rare central nervous system (CNS) diseases, such as Angelman syndrome and Friedreich’s ataxia. PTC is a…

Patients with Angelman syndrome have significant volume loss of the brain’s gray matter, possibly contributing to motor dysfunction, a study suggests. The study, “From Cortical and Subcortical Grey Matter Abnormalities to Neurobehavioral Phenotype of Angelman Syndrome: A Voxel-Based Morphometry Study,” was published in PLOS One. Angelman syndrome is…

Dietary supplementation with ketone esters significantly decreased the frequency of seizures and improved behavior, learning, memory, and overall function in a recent mouse study of Angelman syndrome. The study, “Ketone ester supplementation attenuates seizure activity, and improves behavior and hippocampal synaptic plasticity in an Angelman syndrome mouse model,” was…

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,…

Children with Angelman syndrome experience severe night waking and higher sleep-disordered breathing scores, which were associated with poor health compared to age-matched peers, a new study looking at sleep disturbance in children with rare genetic syndromes shows. The study titled, “A cross-syndrome cohort comparison…