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Individuals with Angelman syndrome experience development delay, lack of speech, seizures, and walking and balance disorders, and typically exhibit a happy demeanor characterized by frequent smiling, laughter and excitability. Gene therapy involves supplying the cells of a patient with a functional copy of a gene that is missing or mutated, therefore treating the underlying cause of the disease. Angelman syndrome children can look forward to a normal lifespan. Not at the moment, but researchers are working on it. Our sole mission is to cure Angelman syndrome. Not at the moment, but researchers are working on it. Some symptoms can be treated. The Foundation for Angelman Syndrome Therapeutics Australia (or FAST Australia) is an organisation of families and professionals dedicated to assisting individuals living with Angelman syndrome to realise their full potential and quality of life through funding research, education and advocacy. “This discovery is groundbreaking for the entire Angelman syndrome community, creating a sense of hope for individuals with Angelman syndrome, their families and caregivers that we have previously never experienced,” said Eileen Braun, executive director of the ASF. Angelman syndrome is a congenital disorder causing severe neurological impairment that appears in newborns and lasts for a lifetime.
The research was conducted at UNC’s Carolina Institute for Developmental Disabilities in the Department of Cell and Molecular Physiology. Studies have identified an Angelman syndrome gene on chromosome 15.
Most people have never heard of Angelman syndrome (AS), but scientists believe that AS has the greatest potential for being cured when compared to other neurogenetic disorders.
The condition is permanent but is not degenerative. In AS, this is the UBE3A gene. FAST is committed to bringing life-changing treatments to clinical trials within two years, but we need your help. The research, which is being continually funded by the ASF, has revealed that drugs … Please join us by making a financial gift, spreading the word … FAST’s roadmap to a cure is bold, ambitious, and, with your help, achievable.
Copyright © 2020 Angelman Syndrome Foundation. Males and females are affected equally. Normally, only the maternal copy of the UBE3A gene is active, while the paternal copy is “silenced”. “Three years ago I attended a scientific symposium hosted by the ASF, and after meeting with families of individuals with Angelman syndrome and networking among the Angelman syndrome community, I was inspired to conceptualize a research and drug discovery project that would identify how to restore proper function to the gene that causes Angelman syndrome,” said Ben Philpot, Ph.D., a scientist at UNC and one of the lead researchers behind this project. The research, which is being continually funded by the ASF, has revealed that drugs currently used in the treatment of cancer may also be useful in treating Angelman syndrome. Conducting pre-clinical trials is the next step in evaluating how to make this treatment available to individuals with Angelman syndrome, which is essential to determining the right compound, the right dosage and the right delivery method prior to conducting clinical trials.
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