Gene therapy in the treatment of Fanconi anemia, a progressive bone marrow failure syndrome

David A. Williams, James Croop, Patrick Kelly

Research output: Contribution to journalReview article

12 Scopus citations


Fanconi anemia (FA) is a genetic disease characterized by progressive, fatal bone marrow failure, congenital anomalies and predisposition to cancer. Although stem cell transplantation is therapeutic, human leukocyte antigen-identical sibling donors are available to a minority of patients. In murine models and human cells in vitro, gene transfer corrects the FA cellular phenotype of chromosomal breakage in response to DNA-damaging agents, suggesting therapeutic use of gene transfer is possible. However, disease-specific characteristics make application of viral vector technology difficult. Multiple studies are currently underway to develop a gene therapy approach for treating this disease, including phase I trials.

Original languageEnglish (US)
Pages (from-to)461-466
Number of pages6
JournalCurrent Opinion in Molecular Therapeutics
Issue number5
StatePublished - Oct 1 2005



  • Aplastic anemia
  • Chromosomal instability
  • DNA-damaging agent
  • Fanconi anemia
  • Gene transfer
  • Stem cell

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Pharmacology, Toxicology and Pharmaceutics(all)

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