By Lauren Hoffer Getting out of town is hard. I don’t need to tell any of you this. The day before we left, Greg looked at me and said, “Today is going to be painful.” We had fast and furious workdays squaring things away. We did the usual parenting gig; “keeping the babies alive” we
Blog
Taking Flight: A Look Toward the Current and Future Clinical Trials for Angelman Syndrome
Barb Bailus PhD Hello everyone, in celebration of International Angelman Syndrome Day last week, we are going to take a glance into the future and review several of the current and upcoming clinical trials for Angelman Syndrome! Let’s also take a moment to realize that the December Gala marked the 10 year anniversary of FAST
FAST Welcomes New Chief Scientific Communications Reporter, Barb Bailus PhD
Understand the Power of Your Donations Hello fellow Angelman Community, as this is my first “official” blog I am going to take a moment and introduce myself. I am a research scientist with a specific focus on genetic and neurological disorders. As a doctoral student I did my research in Dr. David Segal’s lab, investigating
GeneTx Biotherapeutics receives FDA orphan-drug designation for Angelman syndrome treatment
Downers Grove, Ill., March 27, 2018 – The U.S. Food and Drug Administration has granted orphan-drug designation to GeneTx Biotherapeutics LLC’s GTX-101 for the treatment of Angelman syndrome, a rare neurogenetic disorder that affects approximately one in 15,000 people. GTX-101 is the first drug candidate for the startup biotechnology company. “No approved treatments for Angelman
New biotech launched for antisense program targeting Angelman syndrome
Downers Grove, Ill., Feb. 22, 2018 – FAST (Foundation for Angelman Syndrome Therapeutics) announced today the launch of GeneTx Biotherapeutics LLC (GeneTx), a subsidiary of FAST, for the development and commercialization of an investigational antisense drug, GTX-101, for the treatment of Angelman syndrome (AS). FAST selected Paula Evans, the chairperson of FAST, to serve as
About GeneTx
Beginning in early 2012, FAST began funding the Dindot laboratory at Texas A&M University to understand the mechanism by which UBE3A-AS turns off the paternal UBE3A allele, why the paternal UBE3A allele is off in neurons, and how that process may be circumvented as a potential therapy for AS. Research in the Dindot laboratory identified
Angelman Biomarkers and Outcome Measures Alliance and Roche begin patient-centered qualitative research to inform potential outcome measures for Angelman syndrome clinical trials
F. Hoffmann-La Roche Ltd, (Roche), one of the world’s largest pharmaceutical and diagnostics companies, announced today that it has funded the first phase of a study to better understand which symptoms of Angelman syndrome impact families most. The study aims to better understand the impact of Angelman syndrome on patients and their families through interviews
Interview Study Seeks Caregivers of Children/Adolescents with Angelman Syndrome.
The purpose of this interview study is to gather information about caregivers’ experiences with Angelman syndrome (AS). Caregivers of patients aged 5 to 17 years will be interviewed about their experiences with AS. Caregivers will also be asked to complete, and evaluate, a number of questionnaires in terms of their relevance to AS patients, appropriateness,
Genomic Imprinting Does Not Reduce the Dosage of UBE3A in Neurons
Summary by Allyson Berent, DVM, DACVIM Angelman syndrome (AS) is caused by loss of the maternally inherited copy of the UBE3A gene. Like most genes, the UBE3A gene is present on both alleles of chromosome 15, the one inherited from the mother (maternal allele) and the one inherited from the father (paternal allele); however, UBE3A
Quantitative Measurement of Communication Ability in Children with Angelman Syndrome
Summary by Allyson Berent, DVM, DACVIM Individuals affected with Angelman syndrome (AS) are known to have limited functional speech and are typically able to communicate through gestures, sounds, minimal signs, and augmentative communication devices (AAC). The lack of functional speech in AS is thought to be associated with cognitive delays and oral motor dysfunction. Traditional
