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Human Gene Therapy

Gene therapy is a powerful and rapidly-advancing tool to treat disease. Historically, treatment options for genetic diseases have been woefully limited. While previous classes of drugs could act in many helpful ways within the body, mutated and defective genes remained out of their reach. Today, state-of-the-art gene therapies are blazing new trails for the treatment of genetic disease.

At the forefront of these efforts is the work to cure a group of blindness-causing genetic diseases called Leber’s Congenital Amaurosis (LCA). In a landmark phase III clinical trial for gene therapy, patients with a type of LCA caused by a mutation in the gene RPE65 were given a breakthrough gene therapy called voretigene neparvovec. The treatment provided an additional, healthy copy of the RPE65 gene to replace the diseased version in LCA patients. In this trial, 31 patients were randomly given either the gene therapy or a placebo. Within a year, the gene therapy improved vision in patients without serious side-effects or reactions to the drug. For the first time, patients suffering from a genetic disease might have hope for a cure.

Dr. Mahajan is an expert in gene therapy and genetic diseases of the eye. He participated as a surgeon in the LCA gene therapy trial, and is actively working to refine and improve treatments for patients suffering from genetic disease. Inspired and supported by these patients, the Omics Lab works  to use gene therapy to create new options for genetic disease.