Angelman Syndrome: Yale Medicine Geneticists Explain

Angelman syndrome, a rare genetic disorder that causes intellectual disabilities, speech impairment, and abnormal gait, is a complex condition that Yale School of Medicine researchers are actively studying.

By better understanding Angelman syndrome at the molecular level, researchers can look toward developing treatments. Currently, there are no specific treatments approved for Angelman syndrome. In recent decades, scientists have learned that the disorder is caused by a defect in the maternal copy of the UBE3A gene on chromosome 15.

Doctors use genetic testing to confirm a diagnosis of Angelman syndrome, and there are several different types of tests.

“It's very important for families to find a physician who understands what molecular defect is occurring. At the Yale DNA Diagnostic Lab, we can identify the defect,” says Yong-Hui Jiang, MD, PhD, chief of medical genetics for Yale Medicine.

With a clear, specific diagnosis, doctors can predict what will happen in the future and help guide treatment, says Xiaona Lu, MD, PhD, a Yale School of Medicine research scientist.

Gene therapy, CRISPR gene-editing techniques, and other strategies are being investigated as ways to restore normal UBE3A function. With ongoing clinical trials, Yale researchers and collaborators remain optimistic that more effective, targeted treatments will be available in the future.

Drs. Jiang and Lu talk more about these prospects in the video above.