David Williams And Logo Fanconi anemia, a fatal genetic blood disease is probably characterized by progressive bone marrow failure, multiple congenital anomalies and a predisposition to cancer. Patients with this ailment may have a defect in DNA repair leading to progressive blood stem cell loss and ultimately death by the age 20. Scientists from the Children’s Hospital Boston claim to have developed a combination of stem-cell and gene-therapy for treating Fanconi anemia.

Novel means to create induced pluripotent stem (iPS) cells from a patient’s skin or other tissue will be introduced. The achieved cells are apparently going to be transformed into genetically repaired hematopoietic stem cells for making normal blood cells. David Williams, MD, chief of Hematology/Oncology and director of Translational Research, and colleagues claim that Fanconi anemia can be treated with gene therapy alone, as it generally occurs from a single genetic mutation. The developed combination will be tested in mice with the rare syndrome to overcome the difficulty of genetic correction.

The research is funded by The National Institutes of Health.