Hemoglobin diseases are deadly disorders that affect millions of people globally. Could we provide a permanent cure to the millions of people suffering from inherited blood disorders? Helsinki Challenge semifinalist team leader Kirmo Wartiovaara is convinced we can. Wartiovaara answers a Skype call in sunny California, where he and most of his team are working on a cure for one of the worlds most common and difficult genetic diseases, beta-thalassemia.
Because hundreds of different mutations can cause beta-thalassemia, the team’s idea is not to correct each patients specific mutation, but to restore production of the fetal hemoglobin by a genetic modification. Fetal hemoglobin production in adult life is sometimes seen in normal individuals, and individuals with a beta-thalassemia mutation can live a normal life if they have high fetal hemoglobin production. The team has already engineered stem cells from several Finnish patients, and is now expanding their focus to more global diseases and patients.
The groundbreaking new idea is to genetically reprogram beta-thalassemia patients’ hemoglobin production. Methods for doing this are powerful and promising, but also new. This means there’s still a lot of work to be done in order to make them safe and simple enough to be used outside research conditions.
From diagnostics to a cure
Clinical genetics has traditionally been mostly about diagnostics and counseling, explaining the genetic causes, risks, and probabilities related to a disease. With new genetic editing methods, scientists have the ability to write almost any genetic program inside a cell. Instead of giving stem cells from another person by bone marrow transplantation, which is expensive and problematic, Wartovaara’s team wants to reprogram the patient’s own stem cells to produce the beneficial fetal hemoglobin. Success would mean a universal treatment for any patient suffering from the blood disorder – and possibly new opportunities to cure other inherited diseases.
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TEAM: Team leader Kirmo Wartiovaara (UH Research Programs Unit (RPU), Faculty of Medicine and HUS Kliininen genetiikka), David I.K. Martin, M.D (Childrens Hospital Oakland Research Institute (CHORI)), Mark C.Walters, M.D. (CHORI), Denise Munoz, PhD (CHORI), Timo Otonkoski, M.D. PhD, professor (RPU, UH), Diego Balboa, MSc (RPU UH).