Rare Bubble Boy Disease likely cured with New Gene Therapy

Eight infants with a severe

Question: Consider the following statement regarding the terms Bubble Boy:
(1) It is related to baby which always play with bubble.
(2) Bubble boy is a disease in babies to be born with little to no immune protection.
Choose the correct statement/s:
(a) Only(1)
(b) Only(2)
(c) Both (1) and (2)
(d) Neither (1) nor(2)
Answer (b)
Related facts:

  • Eight infants with a severe immune disorder, known as bubble boy disease, appear to be cured of the disease by experimental gene therapy.
  • The disorder, officially called X-linked severe combined immunodeficiency (SCID-X1).
  • This deficiency causes babies to be born with little to no immune protection, making them prone to developing life-threatening infections.
  • It’s caused by a specific gene mutation.
  • The new gene therapy involves using an altered version of HIV (In this case, the virus had been genetically engineered so that it does not cause disease.)
  • SCID-X1 is caused by a mutation in a gene called IL2RG, which is critical for normal immune function.
  • The condition is rare, likely affecting about 1 in 50,000 to 100,000 newborns.
  • The disease can be essentially cured by a bone-marrow transplant from a sibling that is a match in terms of certain immune system proteins.
  • But fewer than 20% of patients with SCID-X1 have such a donor available.
  • Bone-marrow transplants from unrelated donors are typically less effective and come with greater risks.
  • The name bubble boy disease comes from the highly publicized case of David Vetter, who was born in 1971 with SCID-X1, and spent most of his life in a plastic bubble while awaiting a bone-marrow transplant.
  • He died at age 12, after receiving his transplant.

The new technique:

  • The researchers first collected patients’ bone marrow. Then, they used the altered version of HIV to insert a working copy of the IL2RG gene into the bone marrow cells. These cells were then infused back into the patients.
  • Before this infusion, the patients received a low dose of a chemotherapy drug to help make space in their marrow for the new cells to grow.
  • One concern with gene therapy is that, after inserting a gene into people’s DNA, genes that are next to the insertion site may turn cancerous, as happened in prior cases where people developed leukemia.
  • But the new treatment worked to prevent this from happening by including insulator genes that essentially block activation of the adjacent genes to prevent them from turning cancerous.
  • The researchers say their technique might serve as a template for developing gene therapies for other blood disorders, such as sickle cell disease.

Link:
https://www.livescience.com/65270-bubble-boy-disease-gene-therapy.html