Without ADA, her T cells died off, leaving her unable to fight infections. She was born with a severe combined immunodeficiency (SCID) due to lack of the enzyme adenosine deaminase (ADA). In 1990, 4-year-old Ashanthi de Silva became the first gene therapy success story. Gene therapy 1.0: First introduction of corrected genes Boston Children’s uses in vivo gene therapy for several disorders, including hemophilia and ornithine transcarbamylase deficiency.Īfter a rocky start, gene therapy is on fire, drawing keen interest from the biopharmaceutical industry. In vivo gene therapy involves direct IV infusion of the vector into the bloodstream or injection into a target organ like the eye. Boston Children’s is using this method for such disorders as sickle cell disease, adrenoleukodystrophy, chronic granulomatous disease and others. Ex vivo gene therapy removes cells from the patient, introduces new genetic material, packaged in a delivery vehicle called a vector, then returns the cells to the patient. Gene therapy falls into two main categories.

In the past decade, gene therapy has become a reality for multiple diseases, especially those caused by mutations in a single gene. In 2003, the Human Genome Project wrapped up, giving us a complete blueprint of our DNA. In the early 1980s, David Williams, MD, and David Nathan, MD, at Boston Children’s Hospital published the first paper showing one could use a virus to insert genes into blood-forming stem cells. (Image: Adobe Stock Illustration: Sebastian Stankiewicz, Boston Children's)Īs early as the 1960s, scientists speculated that DNA sequences could be introduced into patients’ cells to cure genetic disorders. Despite its early checkered history, gene therapy is now becoming a standard of care.

What chromosome occurs with scid