Thalassemia: Puglia at the forefront of research

Gene therapy for thalassemia is taking its first steps in Puglia with a press conference in the Palazzo di Via Capruzzi. Council President Pietro Pepe welcomed representatives from associations involved in research into rare diseases. First among these were Errant Gene Therapeutics (EGT), represented by Enrico Coluzzi, and the Orphan’s Dream Foundation, with vice president Maria Chrionna and treasurer Pat Girondi, an Italian-American artist who has spent his life fighting this hereditary disease, first for personal reasons and then out of a desire to eradicate it.

The meeting, coordinated by Edoardo Altomare, doctor and science communicator, was attended by the councilor for social services Elena Gentile, regional councilor Michele Ventricelli, and Professor Adriana Ceci, hematologist and scientific advisor to the Italian Foundation for Thalassemia.

This ambitious project sees the use of stem cells as the ultimate solution to this little-known disease: “I would like to make a small clarification,” began President Pepe, “this conference was necessary to take stock of a very particular situation, that of research. This is even more so when the research concerns rare diseases, especially when the rare disease is thalassemia, as it is present in the Mediterranean basin and is virtually unknown in the rest of the world.” “These diseases lack support and funding,” continued Pepe, “which is why I feel honored to have been involved in this discussion and express my gratitude to Girondi and all those who dedicate their lives to research and fundraising.”

The Modugno-born artist, however, shrugged off the accolades: “I left school at sixteen, so I’m not a technician, just a small cog in a much larger machine. I try to inspire a solid group that does a lot for research.” It is precisely people like Girondi that research needs to track down funds, which are the bridge to a cure: “We would need a Pat Girondi for every rare disease, but this is not possible,” according to Edoardo Altomare, “however, it is possible to understand how important it is to eradicate thalassemia, starting from Puglia, which, together with Sardinia, has the highest rate of sufferers.”

It is therefore a problem of knowledge about rare diseases, but also of treatment processes: “Thalassemia is currently only treatable with transfusions,” explained Dr. Maria Chironna. “In the past, patients ran a double risk due to blood-borne diseases. Gene therapy would also eliminate this vulnerability for thalassemia patients.”
But research must not be an end in itself: “Patients are not parcels,” noted hematologist Adriana Ceci. “We must ensure that treatment takes place in Italy. It is our duty, especially since this disease develops mainly in the Mediterranean area and especially in our south.”
In conclusion, President Pepe presented two commemorative medals to Pat Girondi and Professor Ceci for their commitment to the fight against rare diseases.