Revolutionizing Angelman Syndrome Treatment: UC Davis Scientists Unveil Breakthrough Stem Cell Gene Therapy

Researchers at UC Davis Health are working on a revolutionary gene therapy aimed at treating Angelman syndrome, a rare neurodevelopmental disorder. This innovative approach could not only reduce but potentially eliminate symptoms by introducing a functional protein that is currently missing in patients.

Angelman syndrome affects about 1 in 15,000 live births, manifesting in early childhood with symptoms like developmental delays, seizures, and challenges in speech and movement. Currently, there’s no effective treatment or cure for this condition. It stems from a defect in the UBE3A gene, which is crucial for proper brain function.

The therapy involves modifying a patient’s own bone marrow stem cells to deliver a working copy of the gene directly to the brain. “We use the immune system to carry the functional protein where it’s needed,” explains Joseph Anderson, a leading researcher in the project. The hope is that a single treatment could have a lasting impact.

In a recent study by Silverman and Anderson, they demonstrated that the therapy was effective in adult and young mouse models. “Past research suggested that after a certain age, symptoms were irreversible, but our findings challenged that belief,” says Silverman. Their current focus is on ensuring the safety of the therapy as they prepare for human clinical trials.

Accurate protein balance is critical; too much of the protein could lead to other issues like Dup15q syndrome. This “Goldilocks” approach—finding the just-right amount of UBE3A—is essential to ensure safety and effectiveness.

As they strive for successful results in their ongoing research, the researchers also aim to extend this gene therapy method to other neurodevelopmental disorders, including SYNGAP1 syndrome. If successful, this could pave the way for new treatment options and bring hope to countless families dealing with these conditions.

This research highlights the potential of personalized medicine, which uses the patient’s own biological material for treatment. According to the National Institutes of Health, gene therapies have made significant strides in recent years, with the market projected to reach $12 billion by 2025. The use of hematopoietic stem cells in such therapies may open new avenues for treating not just genetic disorders but also a range of conditions affecting the nervous system.

“If this works,” Silverman says, “it could change everything for patients and families facing these challenges.”

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