Cure for Rare Disease paves way for broader treatments

A first-of-its-kind cure for a rare genetic disease is offering hope that similar approaches could help treat millions more patients with other conditions.

The treatment, developed by researchers at the University of California, San Francisco, uses gene editing to correct a mutation that causes the rare disease, aromatic L-amino acid decarboxylase deficiency, or AADC. The disease affects about 1 in 100,000 people and can cause severe intellectual disability, movement problems, and seizures.

The new treatment involves using a harmless virus to deliver a gene-editing tool called CRISPR-Cas9 to the patient’s cells. The CRISPR-Cas9 tool then cuts out the mutated gene and replaces it with a healthy copy.

In a clinical trial, the treatment was shown to be safe and effective in all six patients who received it. The patients experienced significant improvements in their symptoms, including improved motor skills, speech, and cognitive function.

The success of this treatment is a major breakthrough for patients with AADC and their families. It is also a proof-of-concept for the use of gene editing to treat other genetic diseases.

According to Dr. Krystof Bankiewicz, a professor of neurology at the University of California, San Francisco, and lead author of the study, .

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