Gene therapy breakthrough heralds treatment for beta-thalassemia

Jul 13, 2010

Italian scientists pioneering a new gene transfer treatment for the blood disorder β-thalassemia have successfully completed preclinical trials, claiming they can correct the lack of beta-globin (ß-globin) in patients' blood cells which causes the disease. The research, published in EMBO Molecular Medicine, reveals how gene therapy may represent a safe alternative to current cures that are limited to a minority of patients.

The disorder β-thalassemia, also known as Cooley's anemia, is caused when a patient cannot produce enough of the ß-globin component of haemoglobin, the protein used by red to carry oxygen around the body. The lack of ß-globin causes life threatening anemia, leading to severe damage of the body's major organs. The condition is most commonly found in Mediterranean, Middle Eastern and Asian populations.

"Currently treatments are limited to lifelong regular blood transfusions, and iron chelation to prevent fatal iron overload. The alternative is bone marrow transplantation, an option open to less than 25% of patients," said Dr Giuliana Ferrari from the San Raffaele Telethon Institute for in Milan. "Our research has focused on gene therapy: by transplanting genetically corrected stem cells we can restore haemoglobin production and overcome the disorder."

Diseases of the blood are good targets for gene therapy because it is possible to harvest stem cells from the patient's bone marrow. The team developed a tool to deliver the correct gene for ß-globin into these harvested cells, a viral vector they called GLOBE.

The cells can then be genetically modified with GLOBE to restore hemoglobin production before being re-administered back into the patient via intravenous injections. The important focus of this work was not only to show that GLOBE can restore haemoglobin production in human cells, but that this genetic transfer-based approach does not impair the biological features of the cells and is not associated with any intrinsic risk for the human genome.

This research is not only crucial for developing a cure for one disease, but as Dr David Williams from the Harvard Medical School says, it may advance the entire discipline of gene therapy research

"This work represents the kind of translational studies that are required to move human investigations forward but are often difficult to fund and publish," said Williams. "Considering the inherent difficulties accompanying human research, studies like those reported in EMBO Molecular Medicine are extremely important for moving the field forward." As the Milan based team can now correct the defective production of beta-globin in patients' blood cells the next step will be to place the corrected cells back into the patient, a step which has already proven successful in mice.

Successful gene therapies are the results of very long studies and our research represents the most comprehensive pre-clinical analysis ever performed on cells derived from thalassemic patients" concluded Ferrari. "We believe this study paves the way forward for the clinical use of genetically corrected using the GLOBE vector."

Explore further: The impact of bacteria in our guts

More information: Roselli E.A., Mezzadra R., Frittoli M.C., Maruggi G., Biral E., Mavilio F., Mastropietro F., Amato A., Tonon G., Refaldi C., Cappellini M.D., Andreani M., Lucarelli G., Roncarolo M.G., Marktel S. and Ferrari G. “Correction of ß-thalassemia major by gene transfer in hematopoietic progenitors of pediatric patients.” EMBO Molecular Medicine, Wiley-Blackwell, July 2010. DOI: 10.1002/emmm.201000083

add to favorites email to friend print save as pdf

Related Stories

Blood protein offers help against anemia

Jan 26, 2010

A new study shows that a protein found in blood alleviates anemia, a condition in which the body's tissues don't get enough oxygen from the blood. In this animal study, injections of the protein, known as transferrin, also ...

Anticancer drugs might be of benefit to sickle-cell patients

Dec 06, 2007

Sickle cell disease (SCD) is an inherited blood disorder caused by a genetic mutation that leads to the generation of a mutant form of the beta-globin chain of hemoglobin (Hb). Red blood cells containing Hb with this mutant ...

New approach to sickle-cell disease shows promise in mice

Dec 07, 2009

A new genetic approach to treating sickle cell disease is showing promising results in mice, report researchers from Children's Hospital Boston. By inactivating a gene they previously discovered to be important in the laboratory, ...

Recommended for you

The impact of bacteria in our guts

2 hours ago

The word metabolism gets tossed around a lot, but it means much more than whether you can go back to the buffet for seconds without worrying about your waistline. In fact, metabolism is the set of biochemical ...

Stem cell therapies hold promise, but obstacles remain

2 hours ago

(Medical Xpress)—In an article appearing online today in the journal Science, a group of researchers, including University of Rochester neurologist Steve Goldman, M.D., Ph.D., review the potential and ch ...

New hope in fight against muscular dystrophy

3 hours ago

Research at Stockholm's KTH Royal Institute of Technology offers hope to those who suffer from Duchenne muscular dystrophy, an incurable, debilitating disease that cuts young lives short.

Biologists reprogram skin cells to mimic rare disease

22 hours ago

Johns Hopkins stem cell biologists have found a way to reprogram a patient's skin cells into cells that mimic and display many biological features of a rare genetic disorder called familial dysautonomia. ...

User comments : 0