Rare disease pioneer Ultragenyx buys out gene therapy company as it targets another malady
The deal includes a $75 million upfront payment and the promise of $115 million to GeneTx shareholders if the Angelman Syndrome therapy hits late-stage clinical and commercial milestones. (Source: bizjournals.com Health Care News Headlines)
Source: bizjournals.com Health Care News Headlines - July 18, 2022 Category: Health Management Authors: Ron Leuty Source Type: news

Biom Therapeutics Receives Orphan Drug Status for BIO017 from the U.S. FDA for the treatment of Angelman Syndrome
There is currently no effective treatment for the 25,000 children diagnosed in the U.S. with Angelman syndrome, a rare pediatric epilepsy. BIO017 showed efficacy in preclinical Angelman animal models and preliminary clinical studies SARASOTA, Fla., Marc... Biopharmaceuticals, Neurology, FDA Biom Therapeutics, Angelman syndrome (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - March 30, 2021 Category: Pharmaceuticals Source Type: news

Innovative research uncovers mechanism behind epilepsy in Angelman syndrome
(Duke-NUS Medical School) First-of-its-kind study led by Duke-NUS Medical School and National Neuroscience Institute (NNI) applies experimental methodology using human neural cells and brain organoids to investigate mechanism underlying epileptic seizures in Angelman syndrome, an autism spectrum disorder. Findings may lead to treatment for this currently untreatable condition. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - January 15, 2020 Category: International Medicine & Public Health Source Type: news

Potassium channel dysfunction in human neuronal models of Angelman syndrome
Disruptions in the ubiquitin protein ligase E3A (UBE3A) gene cause Angelman syndrome (AS). Whereas AS model mice have associated synaptic dysfunction and altered plasticity with abnormal behavior, whether similar or other mechanisms contribute to network hyperactivity and epilepsy susceptibility in AS patients remains unclear. Using human neurons and brain organoids, we demonstrate that UBE3A suppresses neuronal hyperexcitability via ubiquitin-mediated degradation of calcium- and voltage-dependent big potassium (BK) channels. We provide evidence that augmented BK channel activity manifests as increased intrinsic excitabili...
Source: ScienceNOW - December 18, 2019 Category: Science Authors: Sun, A. X., Yuan, Q., Fukuda, M., Yu, W., Yan, H., Lim, G. G. Y., Nai, M. H., DAgostino, G. A., Tran, H.-D., Itahana, Y., Wang, D., Lokman, H., Itahana, K., Lim, S. W. L., Tang, J., Chang, Y. Y., Zhang, M., Cook, S. A., Rackham, O. J. L., Lim, C. T., Tan, Tags: Neuroscience r-articles Source Type: news

Experimental Agent Offers First Hope for Rare Genetic Disorder Experimental Agent Offers First Hope for Rare Genetic Disorder
An experimental agent promises to improve the lives of patients with Angelman syndrome, a rare genetic disorder for which there are no approved therapies and that carries a high, unmet medical need.Medscape Medical News (Source: Medscape Today Headlines)
Source: Medscape Today Headlines - May 13, 2019 Category: Consumer Health News Tags: Neurology & Neurosurgery News Source Type: news

Using genomics to solve a 20-year case study
(Children's National Health System) After 20 years, a patient's family learned that their daughter had two rare disorders, Angelman syndrome and P450scc deficiency, which was detected after researchers found out she had uniparental disomy, two copies of chromosome 15 from one parent and none from another. On April 27, the researchers will receive an award at the Pediatric Endocrine Society's Annual Meeting for best novel insight published in Hormone Research in Paediatrics in 2018. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - April 27, 2019 Category: International Medicine & Public Health Source Type: news

What is Genomic Imprinting?
Discussion Silver-Russell syndrome (SRS) is a rare genetic syndrome first characterized by Silver in 1953 and Russell in 1954. Patients with SRS have characteristic growth patterns and clinical findings, although within an individual patient there are phenotypical differences. Patients are born small-for-gestational age (SGA) but have a relative macrocephaly. There is postnatal growth failure and difficulty feeding, with a very low body mass index. Body asymmetry (e.g. hemihypertrophy) and facial features (i.e. protruding forehead, triangular facies, micrognathia, dental anomalies, downturned mouth corners, and ear anomali...
Source: PediatricEducation.org - November 26, 2018 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

Can genetic therapy help kids with Angelman syndrome overcome seizures?
(University of North Carolina Health Care) Angelman syndrome is a genetic disease with no cure. Children grow up with severe intellectual disabilities and a range of other problems, arguably the worst of which are epileptic seizures. Now scientists at the UNC School of Medicine have found evidence that genetic therapy may prevent the enhanced seizure susceptibility. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - November 20, 2018 Category: International Medicine & Public Health Source Type: news

Positive Results For Ovid Drug, But Questions Remain
This morning, Ovid Therapeutics, a small biotechnology company, is announcing data indicating that a drug, gaboxadol, may be of some help for patients with a condition called Angelman Syndrome. (Source: Forbes.com Healthcare News)
Source: Forbes.com Healthcare News - August 6, 2018 Category: Pharmaceuticals Authors: Matthew Herper, Forbes Staff Tags: NASDAQ:OVID Source Type: news

UPV/EHU researchers account for the complex symptoms of Angelman syndrome
(University of the Basque Country) A research group at the Faculty of Science and Technology of the UPV/EHU-University of the Basque Country has managed to reliably identify the changes in the proteins altered by the UBE3A enzyme, responsible for Angelman syndrome. This disease causes problems in intellectual and motor development, epilepsy, difficulties in communication, and very few hours of sleep. Funding provided by the Angelman Syndrome Association has been a key factor in being able to complete the research. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - April 19, 2018 Category: Biology Source Type: news

Integration of CpG-free DNA induces de novo methylation of CpG islands in pluripotent stem cells
CpG islands (CGIs) are primarily promoter-associated genomic regions and are mostly unmethylated within highly methylated mammalian genomes. The mechanisms by which CGIs are protected from de novo methylation remain elusive. Here we show that insertion of CpG-free DNA into targeted CGIs induces de novo methylation of the entire CGI in human pluripotent stem cells (PSCs). The methylation status is stably maintained even after CpG-free DNA removal, extensive passaging, and differentiation. By targeting the DNA mismatch repair gene MLH1 CGI, we could generate a PSC model of a cancer-related epimutation. Furthermore, we succes...
Source: ScienceNOW - May 4, 2017 Category: Science Authors: Takahashi, Y., Wu, J., Suzuki, K., Martinez-Redondo, P., Li, M., Liao, H.-K., Wu, M.-Z., Hernandez-Benitez, R., Hishida, T., Shokhirev, M. N., Esteban, C. R., Sancho-Martinez, I., Belmonte, J. C. I. Tags: Molecular Biology r-articles Source Type: news

Meet the girl who sleeps for just 90 minutes each night
Ever Hisko, from Renfrew, Ontario, was only recently diagnosed with Angelman syndrome - which has no cure. Not only does it affect her sleeping, but it also means she is unable to speak. (Source: the Mail online | Health)
Source: the Mail online | Health - April 28, 2017 Category: Consumer Health News Source Type: news

Stem cells help researchers identify neuronal defects causing Angelman syndrome
Researchers have used stem cells derived from patients with Angelman syndrome to identify the underlying neuronal defects that cause the rare neurogenetic disorder, an important step in the ongoing search for potential treatments for Angelman and a possible cure. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - April 24, 2017 Category: Science Source Type: news

Stem cells help researchers identify neuronal defects causing Angelman syndrome
(University of Connecticut) Researchers at UConn Health used stem cells derived from patients with Angelman syndrome to identify the underlying neuronal defects that cause the rare neurogenetic disorder, an important step in the ongoing search for potential treatments for Angelman and a possible cure. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - April 24, 2017 Category: Global & Universal Source Type: news

Ovid commences Phase I trial of OV101 to treat Angelman / Fragile X syndromes
Biopharmaceutical firm Ovid Therapeutics has commenced the Phase I clinical trial of OV101 for the treatment of adolescents with Angelman syndrome or Fragile X syndrome. (Source: Drug Development Technology)
Source: Drug Development Technology - April 10, 2017 Category: Pharmaceuticals Source Type: news