Angelman syndrome is a rare genetic disorder characterized by various challenges such as poor muscle control, limited speech, epilepsy, and intellectual disabilities. Researchers at the UNC School of Medicine have made significant progress towards finding a safe and effective treatment for this condition.
Dr. Ben Philpot, a distinguished professor at UNC School of Medicine, and his team have identified a small molecule that has the potential to be a safe and non-invasive treatment for Angelman syndrome. This molecule can activate the dormant paternal gene associated with this condition, leading to improved protein and cell function—a form of genetic therapy for individuals with Angelman syndrome.
Published in Nature Communications, these findings represent a significant advancement in the field of genetics, with Dr. Mark Zylka noting the unparalleled promise of this small molecule compound for treating Angelman syndrome.
Unlike other genetic disorders, Angelman syndrome presents a unique challenge where patients are missing the maternal copy of the UBE3A gene, resulting in disrupted brain development. By targeting the inactive paternal copy of the gene, researchers hope to address this critical issue.
Through extensive screening, Dr. Hanna Vihma and her colleagues identified a compound, (S)-PHA533533, originally developed as an anti-tumor agent, that effectively activated the paternal UBE3A gene in animal models of Angelman syndrome. This compound demonstrated high bioavailability in the brain, setting it apart from previous genetic therapies for the condition.
While (S)-PHA533533 shows promise, further studies are needed to optimize its efficacy and safety for potential clinical use. The research team, in collaboration with experts in medicinal chemistry, is working to refine the drug composition to develop a more advanced version suitable for human trials.
This groundbreaking research was made possible through the support of various organizations, highlighting the collaborative efforts driving innovative treatments for genetic disorders like Angelman syndrome.
