Dr. Alessandro Aiuti introduces new gene therapy to treat “bubble” syndrome
By Mariella Policheni
Forced to live within the confines of the home, unable to have contact with the outside world or to live a normal life like other children – those afflicted by Severe Combined Immunodeficiency Disease (ADA-SCID) can finally smile.
The treatment administered by the team guided by professors Alessandro Aiuti and Maria Grazia Roncarolo at the Istituto San Raffaele, has been proven to be effective: the final results of the experimentation that began in 2000 were published in the New England Journal of Medicine.
It is a therapy that has changed the lives of many “bubble babies” – so called because they are forced to live in a sterile environment – who are now finally free to go out, whether it’s to school, or to play with friends. They are now able to lead a much more normal life.
Professor Aiuti is a medical researcher who boasts a brilliant scientific career. After acquiring his degree in medicine and surgery at the Università di Roma La Sapienza, and completing his doctorate in Human Molecular and Cellular Biology research at the same university, he went on to specialize in Haematology at the Università degli Studi di Milano. From 1994 to 1996, he did research at the Genetics Department at Harvard Medical School in Boston, and is currently associate professor of Pediatrics at the Univesità degli studi di Roma Tor Vergata. He has also published 63 scientific works in international magazines.
The stem cell gene therapy being used by your team has proven to be successful. How many children have you treated?
“Since 2000, we’ve successfully treated 12 children who came from all over the world. Among them was Parker, a Canadian child.”
We’ve been following Parker DesLauriers’ story. What can you tell us about this case?
“A year and a half has passed since Parker underwent treatment. The results are good. Parker is recovering and his immune system is returning to normal function, so we are satisfied with his response to the therapy.”
Will Parker have to return to Milan for a checkup?
“Parker is a child who is growing nicely, and will return to Milan two years after the therapy.”
How did you apply the technique?
“We remedied the defect in the stem cells by taking bone marrow from children and then transplanting back their own marrow. By doing this, the cells made their way back to the bone marrow where they began producing blood cells including lymphoid cells – the cells that protect us from infections but that have been missing in these children since birth.”
Can gene therapy involving stem cells treat other illnesses? What are your goals for the future?
“Goals for the future are to expand the use of stem cells to the Wiskott-Aldrich Syndrome, another form of immunodeficiency, and to Metachromatic Leukodystrophy, a degenerative nervous system condition.”
This Italian research demonstrates the excellent preparedness of Italian scientists. You live and work in Italy, but many other researchers have leftthe country. Is it difficult to work in Italy? Why did you stay?
“I returned after two years in Boston, because I believed in the value of Italian research. We have many excellent scientists. It is possible, by carrying out high-quality research, to obtain results – for us, this was made possible thanks to the Fondazione Telethon. Unfortunately, government funding during recent years is still not enough to draw researchers back to Italy. It’s very important to have more investment in research. Good quality work can be achieved in Italy, and this example shows that we need to have more faith in research.”
Your work is very difficult with a high degree of commitment but also a lot of satisfaction. How do you feelabout being able to save the lives of the many children who come to Milan each year from all over the world?
“I am a doctor above all, so seeing tangible results from many years of laboratory research is great satisfaction – especially seeing children grow up to be healthy, and to see them playing. For me, it’s like having many offspring scattered throughout the world – it’s the source of great joy.”
Publication Date: 2009-02-22
Story Location: http://www.tandemnews.com/viewstory.php?storyid=8935