By funding this important work led by Dr. Danny Miller, the Angelman Syndrome Foundation is helping bring cutting-edge science directly to our community. Advances in long-read sequencing offer an important breakthrough by uncovering the precise genetic changes behind Angelman syndrome, even when previous tests could not.
While most individuals have known causes, a meaningful number either carry difficult-to-interpret variants or have no identified genetic change at all. Without clear answers, families often face years of uncertainty, repeated testing, and limited access to research or treatment opportunities.
Long-read sequencing can change this by pinpointing hidden or complex variants, determining whether a UBE3A change is maternal, and identifying cases that earlier technologies missed. Unlocking this information not only offers families clarity, but it provides access to clinical trials, guides scientists toward more precise therapeutic targets, and strengthens our understanding of Angelman syndrome at its core.
By investing in this work, ASF is helping deliver knowledge our community has never had before—and that knowledge is a critical step toward more personalized therapies and ultimately, a treatment.