Question

The first clinical Gene therapy was done in 1990, for a child suffering from :

• A. Thalassemia
• B. PKU deficiency
• C. Sickle cell anemia
• D. ADA deficiency

Answer 1

Answer:

D. ADA deficiency

• The first successful clinical gene therapy trial was conducted on September 14, 1990, at the National Institutes of Health (NIH) Clinical Center.

• The patient was a four-year-old girl named Ashanti DeSilva.

• She was suffering from Severe Combined Immunodeficiency (SCID) caused by a genetic defect in the enzyme Adenosine Deaminase (ADA).

Mechanism of the Treatment

• ADA Deficiency: This condition leads to the accumulation of toxic metabolites that destroy T-lymphocytes (white blood cells), leaving the patient with no functional immune system.

• Procedure: Physicians extracted white blood cells (lymphocytes) from the patient's blood.

• Genetic Modification: Using a retroviral vector (a disabled virus), a functional gene for the ADA enzyme was inserted into these lymphocytes in a laboratory.

• Reintroduction: The corrected, functional cells were then infused back into the patient's bloodstream.