Research Updates from the 2019 Angelman Syndrome Foundation Conference
Researchers from the Angelman Syndrome Foundation have provided updates on their latest research at the 2019 ASF Family Conference. The research focuses on understanding the role of UBE3A, a protein that is missing in individuals with Angelman Syndrome. They have discovered that UBE3A puts tags on proteins, signaling for them to be discarded, and have identified some proteins that are targeted. They have also studied the structure and location of UBE3A in cells. The researchers are working on various therapeutic approaches, including gene therapy and unsilencing the silent copy of UBE3A inherited from the father. They are also investigating other potential treatments for symptoms such as seizures and anxiety. The researchers are collaborating with pharmaceutical companies and clinics to advance their research and develop safe and effective treatments. The ultimate goal is to improve the lives of individuals with Angelman Syndrome.
At the 2019 Angelman Syndrome Foundation Conference, Ben Philpot provided an exciting research update on the progress being made in the field of Angelman Syndrome. This update covers a range of topics, including basic and translational research, therapeutic approaches, and clinical studies. The aim of this research is to improve the lives of individuals with Angelman Syndrome and find potential treatments for the condition.
Basic and Translational Research
One important aspect of understanding Angelman Syndrome is studying the UBE3A protein, which plays a crucial role in the condition. UBE3A is responsible for tagging proteins for disposal, but when it is missing in individuals with Angelman Syndrome, a buildup of proteins occurs. Recent studies have shed light on the proteins targeted by UBE3A, including proteasomal subunits and a protein phosphatase II phosphatase activator. Understanding the structure and location of UBE3A in cells is also important for developing treatments.
There are several exciting therapeutic approaches being explored for Angelman Syndrome. One approach is gene therapy, which involves using viruses to deliver UBE3A or activate the silent copy of UBE3A inherited from the father. Another approach is unsilencing paternal UBE3A using small molecules or gene-editing technologies like CRISPR. These approaches have shown promising results in preclinical studies and are being further developed for potential clinical trials.
Clinical studies are essential for translating research into effective treatments for individuals with Angelman Syndrome. The Angelman Syndrome Foundation has established a network of Angelman clinics worldwide, which not only provide specialized care but also contribute to research efforts. These clinics participate in natural history studies to understand the progression of the condition and identify potential clinical endpoints. Additionally, efforts are being made to include Angelman Syndrome in newborn screening programs to enable early diagnosis and intervention.
The research updates from the 2019 Angelman Syndrome Foundation Conference highlight the progress being made in understanding and treating Angelman Syndrome. From basic research to clinical studies, scientists and clinicians are working tirelessly to improve the lives of individuals with this condition. The ultimate goal is to develop curative treatments and alleviate the symptoms associated with Angelman Syndrome. The collaboration between researchers, pharmaceutical companies, and the Angelman Syndrome Foundation is crucial in achieving this goal and providing hope for individuals and families affected by the condition.
- Title: Research Updates from the 2019 Angelman Syndrome Foundation Conference
- Author(s): Stormy Chamberlain, Ben Philpot
- Author(s)’ affiliation: University of Connecticut; UNC
- Publication date: 2019-07-25
- Collection: 2019 ASF Family Conference