Research has shown that stem cells can cure Fanconi Anemia, a genetic disorder that might reduce life expectancy by twenty years. It was demonstrated that following correction of the genetic defect cells from patients with Fanconi Anemia can be reprogrammed to make healthy stem cells. These results were presented at the 15th Congress of the European Hematology Association (EHA) being held from June 10 to 13 at the Fira Barcelona Gran Via in Barcelona, Spain.
Fanconi Anemia (FA) is a rare genetic disorder which is inherited from parents who themselves appear normal. Features of FA are varied and include abnormalities of the bones and other organs such as kidney and heart, life-threatening shut-down of the bone marrow, and an increased risk of cancer.
Dr Juan Carlos Izpisua Belmonte from the Salk Institute for Biological Studies in La Jolla and the Center of Regenerative Medicine in Barcelona: ‘We have shown that corrected FA-specific iPS cells can produce blood cells that are disease-free. We offer proof-of-concept that iPS cells can be used to correct the genetic defect in diseases such as FA.’
‘The generation of induced pluripotent stem (iPS) cells has allowed us to make patient-specific pluripotent cells, which are thought to have potential for treatment. It was demonstrated that following correction of the genetic defect, cells from FA patients can be reprogrammed to make patient-specific iPS cells. These cells are indistinguishable from human embryonic stem cells and iPS cells from healthy individuals’, says Dr Izpisua Belmonte.
Life expectancy on average is reduced to 20 years, and patients with serious illness die before they reach adulthood. Patients with mild forms of FA survive until their 50s. Affected individuals usually come to medical attention because of abnormally low blood counts secondary to shut-down of the bone marrow. Without treatment this may lead to death from Infection and/or bleeding. Bone marrow transplantation (usually from a normal brother or sister) is the treatment of choice for severely affected children. Gene therapy offers hope, but the bone marrow obtained from patients contains so few stem cells that it is rarely of use.
